S122P (p.Ser122Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
S122P (p.Ser122Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S122P (p.Ser122Pro) variant details
- p.Ser122Pro
- ExAC rs777860918
- gnomAD rs777860918
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.43
- CADD 21.50
- PolyPhen-2 0.79
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available