G43C (p.Gly43Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
G43C (p.Gly43Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G43C (p.Gly43Cys) variant details
- p.Gly43Cys
- 1000Genomes rs75441140
- ExAC rs75441140
- TOPMed rs75441140
- gnomAD rs75441140
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available