A12T (p.Ala12Thr) variant of ITGB3 (Integrin beta-3)
A12T (p.Ala12Thr) 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 and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs971134148
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- MetaLR 0.05
- MetaSVM -0.98
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available