G36A (p.Gly36Ala) variant of GABRG2 (P18507)
G36A (p.Gly36Ala) in GABRG2 (P18507) 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 0.80 / 1. The record also includes population frequency data and structural context.
G36A (p.Gly36Ala) variant details
- p.Gly36Ala
- gnomAD rs1266267390
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 33.00
- 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 3e-05)
- Structural context available