R138H (p.Arg138His) variant of VPS35 (Q96QK1)
R138H (p.Arg138His) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R138H (p.Arg138His) variant details
- p.Arg138His
- rs2548884889
- ClinGen CA395814320
- ClinVar RCV004482808
- ClinVar RCV006484126
- Uncertain significance
- Inborn genetic diseases; Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.61
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)