M50V (p.Met50Val) variant of ITGA6 (Integrin alpha-6)
M50V (p.Met50Val) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Junctional epidermolysis bullosa with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M50V (p.Met50Val) variant details
- p.Met50Val
- rs138572695
- ClinGen CA1967719
- cosmic curated COSV10725
- ClinVar RCV000885969
- Likely benign
- not provided; Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 24.70
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Likely benign (not provided; Junctional epidermolysis bullosa with pyloric atre)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)