A16V (p.Ala16Val) variant of PINK1 (Q9BXM7)
A16V (p.Ala16Val) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive early-onset Parkinson disease 6; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs897203855
- ClinGen CA18987691
- ClinVar RCV001883055
- ClinVar RCV003365489
- Conflicting interpretations
- Autosomal recessive early-onset Parkinson disease 6; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.77
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive early-onset Parkinson disease 6; Inborn gene)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00051)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)