A19E (p.Ala19Glu) variant of ITGB3 (Integrin beta-3)
A19E (p.Ala19Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 17-47253917-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- MetaLR 0.10
- MetaSVM -1.06
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Literature evidence available