L11P (p.Leu11Pro) variant of PINK1 (Q9BXM7)
L11P (p.Leu11Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 1-20633580-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.59
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available