L11Q (p.Leu11Gln) variant of PINK1 (Q9BXM7)
L11Q (p.Leu11Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- Ensembl rs2053013259
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.52
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available