S102L (p.Ser102Leu) variant of GRM5 (P41594)
S102L (p.Ser102Leu) in GRM5 (P41594) 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 0.58 / 1. The record also includes population frequency data.
S102L (p.Ser102Leu) variant details
- p.Ser102Leu
- NCI-TCGA Cosmic COSV5960
- cosmic curated COSV59609
- NCI-TCGA Cosmic COSV5963
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- MetaLR 0.46
- MetaSVM -0.16
- CADD 26.30
- PolyPhen-2 0.61
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)