G51D (p.Gly51Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G51D (p.Gly51Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- 1000Genomes rs137920159
- ESP rs137920159
- ExAC rs137920159
- TOPMed rs137920159
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.34
- AlphaMissense 0.49
- MetaLR 0.80
- MetaSVM 0.31
- CADD 9.86
- PolyPhen-2 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available