L126F (p.Leu126Phe) variant of PRMT5 (O14744)
L126F (p.Leu126Phe) in PRMT5 (O14744) is a missense change. 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.
L126F (p.Leu126Phe) variant details
- p.Leu126Phe
- ESP rs368112038
- ExAC rs368112038
- TOPMed rs368112038
- gnomAD rs368112038
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.93
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available