R62P (p.Arg62Pro) variant of PRMT5 (O14744)
R62P (p.Arg62Pro) 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 0.38 / 1. The record also includes population frequency data and structural context.
R62P (p.Arg62Pro) variant details
- p.Arg62Pro
- rs2502384053
- ClinGen CA388946574
- ClinVar RCV004120007
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.08
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available