S8N (p.Ser8Asn) variant of GABRG2 (P18507)
S8N (p.Ser8Asn) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- gnomAD 5-162068022-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available