V23A (p.Val23Ala) variant of PARK7 (Parkinson disease protein 7)
V23A (p.Val23Ala) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- gnomAD 1-7962853-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.44
- MetaLR 0.33
- MetaSVM -0.61
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available