G40R (p.Gly40Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G40R (p.Gly40Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- gnomAD rs1941566032
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.29
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available