G43S (p.Gly43Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
G43S (p.Gly43Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- 1000Genomes rs75441140
- ExAC rs75441140
- TOPMed rs75441140
- gnomAD rs75441140
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.45
- CADD 29.50
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available