YTHDF1 p.Ser145=
c.435C>T · rs61737401 · VCV720630
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.51%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.155 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -8.2 | GERP -4.3 |
| Overall | ||
| CADD | 1.314 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.51%
African / African-American · 1,880/75,002 alleles
Filtering AF
2.41%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.37%
Overall
0.164%
2,647/1,613,764 alleles · low-frequency
exomes 1,536/1,461,532 · genomes 1,111/152,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.51% | 40 |
| Ashkenazi Jewishnot grpmax-eligible | 0.882% | 113 |
| Middle Eastern | 0.28% | 357 |
| Remaining individualsnot grpmax-eligible | 0.272% | 368 |
| Admixed American | 0.168% | 594 |
| Finnishnot grpmax-eligible | 0.0801% | 1,249 |
| South Asian | 0.0132% | 7,590 |
| European (non-Finnish) | 0.013% | 7,713 |
| East Asian | 0.00446% | 22,438 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- YTHDF1
- Protein
- p.Ser145=
- Coding
- c.435C>T
- MANE Select
- NM_017798
- dbSNP
- rs61737401
- Type
- single nucleotide variant
- Location
- chr20:63203505 (GRCh38)
- Gene constraint
- LOEUF 0.515 · pLI 0.96 (gnomAD)
- Structure
- AlphaFold pLDDT 62.83 · 10 PDB
Similar variants
- YTHDF1 p.Asn497= Benign ★★ same type
- YTHDF1 p.His375Tyr Benign ★★ same type
- YTHDF1 p.Lys473= Benign ★★ same type
- YTHDF1 p.Ser252= Benign ★★ same type
- YTHDF1 p.Val195= Benign ★★ same type
- YTHDF1 p.Ala146Thr Uncertain significance ★ ⚠ same type
- YTHDF1 p.Ala199Ser Uncertain significance ★ ⚠ same type
- YTHDF1 p.Ala302Gly Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ythdf1-p-ser145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown