G30D (p.Gly30Asp) variant of KRT8 (Keratin, type II cytoskeletal 8)
G30D (p.Gly30Asp) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- rs777050332
- ExAC rs777050332
- gnomAD rs777050332
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.59
- MetaLR 0.67
- MetaSVM -0.07
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available