G43R (p.Gly43Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
G43R (p.Gly43Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- cosmic curated COSV10748
- 1000Genomes rs75441140
- ExAC rs75441140
- TOPMed rs75441140
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available