W7C (p.Trp7Cys) variant of GABRG2 (P18507)
W7C (p.Trp7Cys) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
W7C (p.Trp7Cys) variant details
- p.Trp7Cys
- rs764172866
- ClinGen CA249329
- cosmic curated COSV62722
- ClinVar RCV000203127
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 26.20
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available