A70T (p.Ala70Thr) variant of ITGB4 (Integrin beta-4)
A70T (p.Ala70Thr) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- rs569235037
- NCI-TCGA Cosmic COSV5233
- cosmic curated COSV52332
- 1000Genomes rs569235037
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.19
- CADD 12.50
- PolyPhen-2 0.08
- SIFT 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available