G23S (p.Gly23Ser) variant of PINK1 (Q9BXM7)
G23S (p.Gly23Ser) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs551542832
- ClinGen CA18987709
- ClinVar RCV000518777
- ClinVar RCV001098230
- Conflicting interpretations
- not specified; Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- CADD 10.20
- PolyPhen-2 0.02
- SIFT 0.72
- ClinVar: Conflicting classifications of pathogenicity (not specified; Autosomal recessive early-onset Parkinson disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.23)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)