S66R (p.Ser66Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
S66R (p.Ser66Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S66R (p.Ser66Arg) variant details
- p.Ser66Arg
- Ensembl rs1567743376
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.41
- CADD 11.30
- PolyPhen-2 0.47
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available