G7A (p.Gly7Ala) variant of PRMT5 (O14744)
G7A (p.Gly7Ala) 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 0.46 / 1. The record also includes population frequency data and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- ExAC rs756343350
- TOPMed rs756343350
- gnomAD rs756343350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available