R37S (p.Arg37Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
R37S (p.Arg37Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- ExAC rs769301639
- TOPMed rs769301639
- gnomAD rs769301639
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- AlphaMissense 0.23
- MetaLR 0.39
- MetaSVM -0.56
- CADD 17.70
- PolyPhen-2 0.26
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available