R51Q (p.Arg51Gln) variant of SLC6A3 (Q01959)
R51Q (p.Arg51Gln) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Parkinsonism-dystonia, infantile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs774827862
- ClinGen CA3186470
- ClinVar RCV002235003
- ClinVar RCV002537212
- Uncertain significance
- Inborn genetic diseases; Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -1.01
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (Inborn genetic diseases; Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- 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)