M74L (p.Met74Leu) variant of GABRB3 (P28472)
M74L (p.Met74Leu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M74L (p.Met74Leu) variant details
- p.Met74Leu
- TOPMed rs1456675163
- gnomAD rs1456675163
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available