V14L (p.Val14Leu) variant of PRMT5 (O14744)
V14L (p.Val14Leu) 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.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- ExAC rs761329156
- TOPMed rs761329156
- gnomAD rs761329156
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 19.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available