A65T (p.Ala65Thr) variant of ITGA2B (Integrin alpha-IIb)
A65T (p.Ala65Thr) in ITGA2B (Integrin alpha-IIb) 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 0.24 / 1. The record also includes population frequency data and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.97
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available