A33S (p.Ala33Ser) variant of ITGB4 (Integrin beta-4)
A33S (p.Ala33Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- TOPMed rs745322866
- gnomAD rs745322866
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.12
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available