S34R (p.Ser34Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
S34R (p.Ser34Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- cosmic curated COSV66315
- ESP rs78343594
- ExAC rs78343594
- TOPMed rs78343594
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.58
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available