P5A (p.Pro5Ala) variant of ITGB3 (Integrin beta-3)
P5A (p.Pro5Ala) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- gnomAD 17-47253874-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- MetaLR 0.04
- MetaSVM -1.02
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available