TYR p.Ala348=
c.1044T>C · rs771720319 · VCV880978
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00237%, nfe)
Conditions
1
oculocutaneous albinism
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -1.2, phastCons 0.001 |
| Overall | ||
| CADD | 5.795 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00237%
European (non-Finnish) · 28/1,179,594 alleles
Filtering AF
0.00165%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00142%
Overall
0.00174%
28/1,612,820 alleles · very rare
exomes 26/1,460,660 · genomes 2/152,160 · joint denominator
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
- TYR
- Protein
- p.Ala348=
- Coding
- c.1044T>C
- MANE Select
- NM_000372
- dbSNP
- rs771720319
- Type
- single nucleotide variant
- Location
- chr11:89227830 (GRCh38)
- Gene constraint
- LOEUF 1.346 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.79 · 1 PDB
Similar variants
- TYR p.Ala348Ser Uncertain significance ★ ⚠ same residue
- TYR c.1037-2A>G Pathogenic/Likely pathogenic ★★ same condition
- TYR c.1037-7T>A Pathogenic/Likely pathogenic ★★ same condition
- TYR p.Ala490Asp Likely pathogenic ★★ same condition
- TYR p.Arg116Ter Pathogenic/Likely pathogenic ★★ same condition
- TYR p.Arg217Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TYR p.Arg278Ter Pathogenic ★★ same condition
- TYR p.Arg299His Pathogenic ★★ same condition
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/tyr-p-ala348 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown