C53F (p.Cys53Phe) variant of PARK7 (Parkinson disease protein 7)
C53F (p.Cys53Phe) in PARK7 (Parkinson disease protein 7) 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 and structural context.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- gnomAD rs1186457000
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.49
- CADD 23.10
- PolyPhen-2 0.36
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available