G8V (p.Gly8Val) variant of PRMT5 (O14744)
G8V (p.Gly8Val) in PRMT5 (O14744) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- 1000Genomes rs201479952
- ExAC rs201479952
- TOPMed rs201479952
- gnomAD rs201479952
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available