A9G (p.Ala9Gly) variant of PRMT5 (O14744)
A9G (p.Ala9Gly) 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 0.37 / 1. The record also includes population frequency data and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- rs752005720
- ClinGen CA388947071
- ClinVar RCV004515305
- ExAC rs752005720
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.09
- CADD 26.90
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available