P7H (p.Pro7His) variant of ITGB3 (Integrin beta-3)
P7H (p.Pro7His) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 17-47253881-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- MetaLR 0.06
- MetaSVM -0.99
- CADD 11.20
- PolyPhen-2 0.09
- SIFT 0.26
- Most common in the Ashkenazi Jewish population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available