A16V (p.Ala16Val) variant of ITGB3 (Integrin beta-3)
A16V (p.Ala16Val) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 17-47253908-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- MetaLR 0.08
- MetaSVM -0.97
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- Literature evidence available