P40R (p.Pro40Arg) variant of ITGA6 (Integrin alpha-6)
P40R (p.Pro40Arg) 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 Inborn genetic diseases; Epidermolysis bullosa, junctional 6, with pyloric atres. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- ExAC rs761245728
- TOPMed rs761245728
- gnomAD rs761245728
- Uncertain significance
- Inborn genetic diseases; Epidermolysis bullosa, junctional 6, with pyloric atres
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 21.90
- PolyPhen-2 0.35
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases; Epidermolysis bullosa, junctional 6, wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available