S15W (p.Ser15Trp) variant of GABRG2 (P18507)
S15W (p.Ser15Trp) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S15W (p.Ser15Trp) variant details
- p.Ser15Trp
- ExAC rs750798004
- gnomAD rs750798004
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 17.30
- PolyPhen-2 0.44
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available