G100D (p.Gly100Asp) variant of KRT5 (Keratin, type II cytoskeletal 5)
G100D (p.Gly100Asp) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G100D (p.Gly100Asp) variant details
- p.Gly100Asp
- ExAC rs780359251
- TOPMed rs780359251
- gnomAD rs780359251
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.34
- CADD 21.70
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available