R9G (p.Arg9Gly) variant of PINK1 (Q9BXM7)
R9G (p.Arg9Gly) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs2154533488
- ClinGen CA338853365
- ClinVar RCV001870326
- Ensembl rs2154533488
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.27
- MetaLR 0.36
- MetaSVM -0.39
- PolyPhen-2 0.46
- SIFT 0.01
- MutPred 0.57
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)