F21L (p.Phe21Leu) variant of PINK1 (Q9BXM7)
F21L (p.Phe21Leu) in PINK1 (Q9BXM7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- TOPMed rs2053014865
- gnomAD rs2053014865
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.18
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available