G7E (p.Gly7Glu) variant of PRMT5 (O14744)
G7E (p.Gly7Glu) in PRMT5 (O14744) 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 0.49 / 1. The record also includes population frequency data and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- rs756343350
- ClinGen CA388947080
- ClinVar RCV004104994
- ExAC rs756343350
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 0.54
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available