L31F (p.Leu31Phe) variant of PINK1 (Q9BXM7)
L31F (p.Leu31Phe) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- ExAC rs577010119
- gnomAD rs577010119
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available