P63L (p.Pro63Leu) variant of PRMT5 (O14744)
P63L (p.Pro63Leu) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- TOPMed rs1358325471
- gnomAD rs1358325471
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.06
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available