R50G (p.Arg50Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
R50G (p.Arg50Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- 1000Genomes rs78479490
- gnomAD rs78479490
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.34
- CADD 16.70
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available