A3V (p.Ala3Val) variant of PRMT5 (O14744)
A3V (p.Ala3Val) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- cosmic curated COSV10956
- TOPMed rs200812239
- gnomAD rs200812239
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.16
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available