G108D (p.Gly108Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G108D (p.Gly108Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G108D (p.Gly108Asp) variant details
- p.Gly108Asp
- ExAC rs764430671
- gnomAD rs764430671
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.50
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available