A21E (p.Ala21Glu) variant of ITGB3 (Integrin beta-3)
A21E (p.Ala21Glu) in ITGB3 (Integrin beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 17-47253923-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- MetaLR 0.06
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available