R100G (p.Arg100Gly) variant of PRMT5 (O14744)
R100G (p.Arg100Gly) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R100G (p.Arg100Gly) variant details
- p.Arg100Gly
- ExAC rs774444973
- TOPMed rs774444973
- gnomAD rs774444973
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.85
- CADD 25.40
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available