G70D (p.Gly70Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G70D (p.Gly70Asp) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G70D (p.Gly70Asp) variant details
- p.Gly70Asp
- gnomAD rs1908239036
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.32
- CADD 11.30
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available