KRT83 p.Ser448=
c.1344G>A · VCV4916931
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00675%, amr)
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 -20 | GERP -3.7 |
| Overall | ||
| CADD | 0.007 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00675%
Admixed American · 4/59,220 alleles
Filtering AF
0.00228%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00136%
Overall
0.00131%
21/1,605,004 alleles · very rare
exomes 17/1,452,816 · genomes 4/152,188 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00675% | 14,805 |
| Remaining individualsnot grpmax-eligible | 0.00322% | 31,012 |
| African / African-American | 0.00267% | 37,390 |
| European (non-Finnish) | 0.0011% | 90,510 |
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
- KRT83
- Protein
- p.Ser448=
- Coding
- c.1344G>A
- MANE Select
- NM_002282
- Type
- single nucleotide variant
- Location
- chr12:52314769 (GRCh38)
- Gene constraint
- LOEUF 1.226 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.81
- Residue 448
- the 'tail' region
Similar variants
- KRT83 p.Ser448Ala Uncertain significance ★ ⚠ same residue
- KRT83 p.Glu407Lys Likely pathogenic ★★ same type
- KRT83 p.Arg130Cys Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg168Trp Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg272Gln Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg272Trp Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg293His Uncertain significance ★★ ⚠ same type
- KRT83 p.Arg321Cys 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/krt83-p-ser448 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown