A5V (p.Ala5Val) variant of PRMT5 (O14744)
A5V (p.Ala5Val) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- ESP rs375927056
- ExAC rs375927056
- TOPMed rs375927056
- gnomAD rs375927056
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.15
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available