A49T (p.Ala49Thr) variant of ITGB4 (Integrin beta-4)
A49T (p.Ala49Thr) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs146966502
- cosmic curated COSV52324
- NCI-TCGA Cosmic COSV5233
- 1000Genomes rs146966502
- Uncertain significance
- Epidermolysis bullosa, junctional 5A, intermediate; Junctional epidermolysis bul
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.63
- CADD 27.80
- PolyPhen-2 0.90
- SIFT 0.05
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 5A, intermediate; Junctional e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available