M74V (p.Met74Val) variant of GABRB3 (P28472)
M74V (p.Met74Val) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M74V (p.Met74Val) variant details
- p.Met74Val
- TOPMed rs1456675163
- gnomAD rs1456675163
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.39
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available