I35M (p.Ile35Met) variant of GRM5 (P41594)
I35M (p.Ile35Met) in GRM5 (P41594) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
I35M (p.Ile35Met) variant details
- p.Ile35Met
- ESP rs138497785
- ExAC rs138497785
- TOPMed rs138497785
- gnomAD rs138497785
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.70
- MetaLR 0.77
- MetaSVM 0.48
- CADD 22.60
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)