A65E (p.Ala65Glu) variant of ITGB4 (Integrin beta-4)
A65E (p.Ala65Glu) in ITGB4 (Integrin beta-4) 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 0.17 / 1. The record also includes population frequency data and structural context.
A65E (p.Ala65Glu) variant details
- p.Ala65Glu
- ESP rs200966154
- ExAC rs200966154
- TOPMed rs200966154
- gnomAD rs200966154
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.23
- CADD 0.52
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available