R62W (p.Arg62Trp) variant of PRMT5 (O14744)
R62W (p.Arg62Trp) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R62W (p.Arg62Trp) variant details
- p.Arg62Trp
- ExAC rs751439994
- gnomAD rs751439994
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.31
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available