G40D (p.Gly40Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G40D (p.Gly40Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- ExAC rs749140215
- TOPMed rs749140215
- gnomAD rs749140215
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.51
- CADD 25.20
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available