D35H (p.Asp35His) variant of ITGA2B (Integrin alpha-IIb)
D35H (p.Asp35His) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D35H (p.Asp35His) variant details
- p.Asp35His
- ExAC rs761862810
- gnomAD rs761862810
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.64
- MetaLR 0.62
- MetaSVM 0.21
- CADD 21.50
- PolyPhen-2 0.19
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available