V96L (p.Val96Leu) variant of PRMT5 (O14744)
V96L (p.Val96Leu) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V96L (p.Val96Leu) variant details
- p.Val96Leu
- ExAC rs763819555
- gnomAD rs763819555
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.04
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available