S12P (p.Ser12Pro) variant of SLC6A3 (Q01959)
S12P (p.Ser12Pro) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- rs149180162
- ClinGen CA3186502
- ClinVar RCV002234333
- ClinVar RCV005278663
- Uncertain significance
- Inborn genetic diseases; Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- MetaLR 0.29
- MetaSVM -0.67
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00043)
- 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)