G44R (p.Gly44Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G44R (p.Gly44Arg) 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.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- 1000Genomes rs146312988
- ESP rs146312988
- ExAC rs146312988
- TOPMed rs146312988
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available