P48L (p.Pro48Leu) variant of PRMT5 (O14744)
P48L (p.Pro48Leu) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- cosmic curated COSV53545
- Ensembl rs1594522930
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available