S11P (p.Ser11Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
S11P (p.Ser11Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- Ensembl rs1567743771
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.48
- CADD 24.20
- PolyPhen-2 0.85
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available