P140R (p.Pro140Arg) variant of ITGA2B (Integrin alpha-IIb)
P140R (p.Pro140Arg) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P140R (p.Pro140Arg) variant details
- p.Pro140Arg
- gnomAD rs1326259084
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- MetaLR 0.86
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available