P45S (p.Pro45Ser) variant of ITGA2B (Integrin alpha-IIb)
P45S (p.Pro45Ser) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- ExAC rs778789586
- TOPMed rs778789586
- gnomAD rs778789586
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.47
- MetaLR 0.59
- MetaSVM 0.21
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available