G20D (p.Gly20Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G20D (p.Gly20Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- ESP rs368821072
- ExAC rs368821072
- TOPMed rs368821072
- gnomAD rs368821072
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.44
- CADD 17.40
- PolyPhen-2 0.30
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available