A33V (p.Ala33Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
A33V (p.Ala33Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- TOPMed rs1268330924
- gnomAD rs1268330924
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.38
- CADD 19.70
- PolyPhen-2 0.56
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available