A2V (p.Ala2Val) variant of PRMT5 (O14744)
A2V (p.Ala2Val) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- ExAC rs775953236
- gnomAD rs775953236
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- CADD 25.40
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available