H147Y (p.His147Tyr) variant of PRMT5 (O14744)
H147Y (p.His147Tyr) 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 0.49 / 1. The record also includes population frequency data and structural context.
H147Y (p.His147Tyr) variant details
- p.His147Tyr
- rs201524125
- ClinGen CA7107362
- ClinVar RCV004286297
- ExAC rs201524125
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available