R20W (p.Arg20Trp) variant of KRT12 (Keratin, type I cytoskeletal 12)
R20W (p.Arg20Trp) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs17566772
- ClinGen CA8548971
- ClinVar RCV002104715
- UniProt VAR 009547
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.12
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs17566772)
- UniProt: Benign (in dbSNP:rs17566772)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete… (PMID 10644419)
- Cited in: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family. (PMID 18245975)