G32E (p.Gly32Glu) variant of GABRB3 (P28472)
G32E (p.Gly32Glu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- cosmic curated COSV10582
- TOPMed rs1891187935
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available