A19V (p.Ala19Val) variant of ITGB3 (Integrin beta-3)
A19V (p.Ala19Val) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 17-47253917-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- MetaLR 0.03
- MetaSVM -0.93
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Ashkenazi Jewish population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available