G16V (p.Gly16Val) variant of KRT1 (Keratin, type II cytoskeletal 1)
G16V (p.Gly16Val) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- TOPMed rs1285894552
- gnomAD rs1285894552
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available