L7P (p.Leu7Pro) variant of PINK1 (Q9BXM7)
L7P (p.Leu7Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 1-20633568-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.62
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available