V14M (p.Val14Met) variant of PRMT5 (O14744)
V14M (p.Val14Met) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V14M (p.Val14Met) variant details
- p.Val14Met
- ExAC rs761329156
- TOPMed rs761329156
- gnomAD rs761329156
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.15
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available