S13R (p.Ser13Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
S13R (p.Ser13Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- gnomAD rs1288256987
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.21
- CADD 6.85
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available