F122L (p.Phe122Leu) variant of PRMT5 (O14744)
F122L (p.Phe122Leu) in PRMT5 (O14744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F122L (p.Phe122Leu) variant details
- p.Phe122Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available