A12S (p.Ala12Ser) variant of ITGB3 (Integrin beta-3)
A12S (p.Ala12Ser) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 17-47253895-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- MetaLR 0.05
- MetaSVM -0.98
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available