S25R (p.Ser25Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
S25R (p.Ser25Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S25R (p.Ser25Arg) variant details
- p.Ser25Arg
- gnomAD rs1251827411
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.43
- CADD 1.56
- PolyPhen-2 0.18
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available