G130D (p.Gly130Asp) variant of KRT10 (Keratin, type I cytoskeletal 10)
G130D (p.Gly130Asp) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
G130D (p.Gly130Asp) variant details
- p.Gly130Asp
- ExAC rs761352015
- gnomAD rs761352015
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.47
- CADD 23.60
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)