N38D (p.Asn38Asp) variant of GABRA1 (P14867)
N38D (p.Asn38Asp) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- TOPMed rs1388733494
- gnomAD rs1388733494
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available