R41C (p.Arg41Cys) variant of KRT16 (Keratin, type I cytoskeletal 16)
R41C (p.Arg41Cys) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- rs111383277
- ClinGen CA8563349
- ClinVar RCV002132110
- ClinVar RCV003978711
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.39
- CADD 24.50
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available