L10M (p.Leu10Met) variant of PARK7 (Parkinson disease protein 7)
L10M (p.Leu10Met) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PARK7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- TOPMed rs1309873819
- gnomAD rs1309873819
- Uncertain significance
- in PARK7
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.65
- CADD 25.30
- EBI: Variant of uncertain significance (in PARK7)
- UniProt: Uncertain significance (in PARK7)
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available