V23L (p.Val23Leu) variant of ITGB3 (Integrin beta-3)
V23L (p.Val23Leu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- gnomAD 17-47253928-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- MetaLR 0.06
- MetaSVM -0.99
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available