L17P (p.Leu17Pro) variant of PINK1 (Q9BXM7)
L17P (p.Leu17Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 1-20633598-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available