V41M (p.Val41Met) variant of GABRB3 (P28472)
V41M (p.Val41Met) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- TOPMed rs1334054422
- gnomAD rs1334054422
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.59
- CADD 25.80
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available