G26A (p.Gly26Ala) variant of ITGB3 (Integrin beta-3)
G26A (p.Gly26Ala) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- gnomAD rs1207144046
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- MetaLR 0.06
- MetaSVM -0.88
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.54
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available