A9V (p.Ala9Val) variant of PRMT5 (O14744)
A9V (p.Ala9Val) 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.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- ExAC rs752005720
- gnomAD rs752005720
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.07
- CADD 25.60
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available