L8P (p.Leu8Pro) variant of ITGA2B (Integrin alpha-IIb)
L8P (p.Leu8Pro) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- TOPMed rs1415511148
- gnomAD rs1415511148
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.24
- MetaLR 0.68
- MetaSVM -0.20
- CADD 9.80
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available