V14A (p.Val14Ala) variant of ITGB3 (Integrin beta-3)
V14A (p.Val14Ala) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- gnomAD 17-47253902-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- MetaLR 0.08
- MetaSVM -1.02
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available