G106D (p.Gly106Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G106D (p.Gly106Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G106D (p.Gly106Asp) variant details
- p.Gly106Asp
- gnomAD rs1164519634
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.44
- CADD 18.30
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available