R37C (p.Arg37Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
R37C (p.Arg37Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- ExAC rs769301639
- TOPMed rs769301639
- gnomAD rs769301639
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available