A16T (p.Ala16Thr) variant of ITGB3 (Integrin beta-3)
A16T (p.Ala16Thr) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 17-47253907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available