W2C (p.Trp2Cys) variant of GABRB3 (P28472)
W2C (p.Trp2Cys) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W2C (p.Trp2Cys) variant details
- p.Trp2Cys
- TOPMed rs1891196840
- gnomAD rs1891196840
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available