G132D (p.Gly132Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G132D (p.Gly132Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- gnomAD rs1161359255
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.52
- CADD 20.40
- PolyPhen-2 0.23
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available