R123S (p.Arg123Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
R123S (p.Arg123Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R123S (p.Arg123Ser) variant details
- p.Arg123Ser
- ExAC rs775411186
- TOPMed rs775411186
- gnomAD rs775411186
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.80
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available