R50C (p.Arg50Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
R50C (p.Arg50Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- cosmic curated COSV66315
- 1000Genomes rs78479490
- gnomAD rs78479490
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.30
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available