V15A (p.Val15Ala) variant of PRKN (O60260)
V15A (p.Val15Ala) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs1790160024
- ClinGen CA366477438
- cosmic curated COSV10063
- ClinVar RCV003135142
- Uncertain significance
- Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- AlphaMissense 0.41
- MetaLR 0.57
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Autosomal recessive juvenile Parkinson disease 2)
- EBI: Variant of uncertain significance (in PARK2)
- UniProt: Uncertain significance (in PARK2)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.228
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)