H143P (p.His143Pro) variant of ITGA2B (Integrin alpha-IIb)
H143P (p.His143Pro) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
H143P (p.His143Pro) variant details
- p.His143Pro
- gnomAD rs200006464
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.83
- MetaLR 0.75
- MetaSVM 0.67
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available