S42Y (p.Ser42Tyr) variant of GABRG2 (P18507)
S42Y (p.Ser42Tyr) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S42Y (p.Ser42Tyr) variant details
- p.Ser42Tyr
- cosmic curated COSV10968
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available