D68N (p.Asp68Asn) variant of GABRB3 (P28472)
D68N (p.Asp68Asn) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- 1000Genomes rs2140199085
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.40
- Population evidence available
- Structural context available