S109F (p.Ser109Phe) variant of KRT12 (Keratin, type I cytoskeletal 12)
S109F (p.Ser109Phe) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S109F (p.Ser109Phe) variant details
- p.Ser109Phe
- gnomAD rs866275199
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available