G16S (p.Gly16Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G16S (p.Gly16Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- ExAC rs748686918
- gnomAD rs748686918
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.15
- CADD 15.20
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available