G55R (p.Gly55Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G55R (p.Gly55Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- ESP rs371259068
- ExAC rs371259068
- TOPMed rs371259068
- gnomAD rs371259068
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available