Y34C (p.Tyr34Cys) variant of GABRG2 (P18507)
Y34C (p.Tyr34Cys) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- TOPMed rs1459935300
- gnomAD rs1459935300
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.47
- CADD 23.70
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available