R29S (p.Arg29Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
R29S (p.Arg29Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- ExAC rs201494492
- TOPMed rs201494492
- gnomAD rs201494492
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available