I63V (p.Ile63Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
I63V (p.Ile63Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inflammatory bowel disease; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
I63V (p.Ile63Val) variant details
- p.Ile63Val
- rs59536457
- ClinGen CA217264
- cosmic curated COSV53177
- ClinVar RCV000056939
- Benign/Likely benign
- Inflammatory bowel disease; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Benign/Likely benign (Inflammatory bowel disease; not specified; not provided)
- EBI: Benign (in dbSNP:rs59536457)
- UniProt: Benign (in dbSNP:rs59536457)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Cited in: Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PMID 12724528)