V14L (p.Val14Leu) variant of ITGB3 (Integrin beta-3)
V14L (p.Val14Leu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- gnomAD 17-47253901-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- MetaLR 0.06
- MetaSVM -0.98
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available