Q128R (p.Gln128Arg) variant of PRMT5 (O14744)
Q128R (p.Gln128Arg) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q128R (p.Gln128Arg) variant details
- p.Gln128Arg
- ExAC rs765437315
- gnomAD rs765437315
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.03
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.58
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available