L11M (p.Leu11Met) variant of PINK1 (Q9BXM7)
L11M (p.Leu11Met) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- rs886044686
- ClinGen CA10607059
- ClinVar RCV000389665
- Ensembl rs886044686
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.36
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available