G78R (p.Gly78Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
G78R (p.Gly78Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- gnomAD rs1939957981
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.34
- CADD 22.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available