V44A (p.Val44Ala) variant of PARK7 (Parkinson disease protein 7)
V44A (p.Val44Ala) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- TOPMed rs1340110901
- gnomAD rs1340110901
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.76
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available