G70R (p.Gly70Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
G70R (p.Gly70Arg) 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.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- gnomAD rs1467795002
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- CADD 15.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available