S3L (p.Ser3Leu) variant of GABRG2 (P18507)
S3L (p.Ser3Leu) in GABRG2 (P18507) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62716
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available