R31G (p.Arg31Gly) variant of KRT12 (Keratin, type I cytoskeletal 12)
R31G (p.Arg31Gly) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- 1000Genomes rs367803772
- ESP rs367803772
- ExAC rs367803772
- gnomAD rs367803772
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.15
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available