V14E (p.Val14Glu) variant of ITGB3 (Integrin beta-3)
V14E (p.Val14Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V14E (p.Val14Glu) variant details
- p.Val14Glu
- gnomAD 17-47253902-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- MetaLR 0.08
- MetaSVM -1.03
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available