G7V (p.Gly7Val) variant of PRMT5 (O14744)
G7V (p.Gly7Val) in PRMT5 (O14744) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- cosmic curated COSV53545
- ExAC rs756343350
- TOPMed rs756343350
- gnomAD rs756343350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 18.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available