G132R (p.Gly132Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G132R (p.Gly132Arg) 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.
G132R (p.Gly132Arg) variant details
- p.Gly132Arg
- 1000Genomes rs776744794
- ExAC rs776744794
- TOPMed rs776744794
- gnomAD rs776744794
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.46
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available