A4T (p.Ala4Thr) variant of ITGA6 (Integrin alpha-6)
A4T (p.Ala4Thr) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs201418157
- ClinGen CA1967693
- ClinVar RCV000320725
- ClinVar RCV000898687
- Likely benign
- not provided; Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Likely benign (not provided; Junctional epidermolysis bullosa with pyloric atre)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)