V96A (p.Val96Ala) variant of PRMT5 (O14744)
V96A (p.Val96Ala) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V96A (p.Val96Ala) variant details
- p.Val96Ala
- TOPMed rs201289389
- gnomAD rs201289389
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available