F24L (p.Phe24Leu) variant of PRKN (O60260)
F24L (p.Phe24Leu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- TOPMed rs1283476623
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -0.94
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.01