A5V (p.Ala5Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
A5V (p.Ala5Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1222118268
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.089
- REVEL 0.10
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available