Q40H (p.Gln40His) variant of ITGB3 (Integrin beta-3)
Q40H (p.Gln40His) 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 0.45 / 1. The record also includes population frequency data and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- ExAC rs758852422
- gnomAD rs758852422
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- MetaLR 0.17
- MetaSVM -0.87
- CADD 23.30
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available