D42G (p.Asp42Gly) variant of GABRB3 (P28472)
D42G (p.Asp42Gly) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- gnomAD rs1180162727
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.69
- CADD 26.00
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available