G111C (p.Gly111Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
G111C (p.Gly111Cys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G111C (p.Gly111Cys) variant details
- p.Gly111Cys
- ExAC rs779771822
- TOPMed rs779771822
- gnomAD rs779771822
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- CADD 8.45
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available