K119Q (p.Lys119Gln) variant of ITGA2B (Integrin alpha-IIb)
K119Q (p.Lys119Gln) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
K119Q (p.Lys119Gln) variant details
- p.Lys119Gln
- TOPMed rs2048644153
- gnomAD rs2048644153
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.59
- AlphaMissense 0.47
- MetaLR 0.81
- MetaSVM 0.73
- CADD 31.00
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available