G79D (p.Gly79Asp) variant of KRT16 (Keratin, type I cytoskeletal 16)
G79D (p.Gly79Asp) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G79D (p.Gly79Asp) variant details
- p.Gly79Asp
- TOPMed rs1908237957
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.44
- CADD 18.90
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available