P40L (p.Pro40Leu) variant of ITGA6 (Integrin alpha-6)
P40L (p.Pro40Leu) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa, junctional 6, with pyloric atresia; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs761245728
- ClinGen CA1967713
- ClinVar RCV004405630
- ClinVar RCV005023516
- Uncertain significance
- Epidermolysis bullosa, junctional 6, with pyloric atresia; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 6, with pyloric atresia; Inbor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)