C129S (p.Cys129Ser) variant of GRM5 (P41594)
C129S (p.Cys129Ser) in GRM5 (P41594) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
C129S (p.Cys129Ser) variant details
- p.Cys129Ser
- Ensembl rs201923611
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.52
- MetaLR 0.78
- MetaSVM 0.74
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available