G128D (p.Gly128Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G128D (p.Gly128Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G128D (p.Gly128Asp) variant details
- p.Gly128Asp
- gnomAD rs1403458668
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.50
- CADD 22.40
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available