L157F (p.Leu157Phe) variant of PRMT5 (O14744)
L157F (p.Leu157Phe) 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.
L157F (p.Leu157Phe) variant details
- p.Leu157Phe
- TOPMed rs113488776
- gnomAD rs113488776
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available