G39D (p.Gly39Asp) variant of KRT3 (Keratin, type II cytoskeletal 3)
G39D (p.Gly39Asp) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- ExAC rs780016039
- gnomAD rs780016039
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.32
- CADD 14.10
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available