R137C (p.Arg137Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
R137C (p.Arg137Cys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of White sponge nevus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R137C (p.Arg137Cys) variant details
- p.Arg137Cys
- rs142183272
- ClinGen CA8560799
- cosmic curated COSV55840
- ClinVar RCV000314166
- Benign
- White sponge nevus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.61
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Benign (White sponge nevus 2)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available