G24V (p.Gly24Val) variant of ITGB3 (Integrin beta-3)
G24V (p.Gly24Val) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- TOPMed rs891252528
- gnomAD rs891252528
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- MetaLR 0.07
- MetaSVM -1.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available