V24G (p.Val24Gly) variant of SLC6A3 (Q01959)
V24G (p.Val24Gly) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- rs2126415795
- ClinGen CA359065287
- ClinVar RCV001904050
- ClinVar RCV002547955
- Uncertain significance
- Inborn genetic diseases; Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.95
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)