P26L (p.Pro26Leu) variant of SLC6A3 (Q01959)
P26L (p.Pro26Leu) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Parkinsonism-dystonia, infantile; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs757417973
- ClinGen CA3186488
- ClinVar RCV000706014
- ClinVar RCV002534451
- Conflicting interpretations
- Parkinsonism-dystonia, infantile; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- MetaLR 0.31
- MetaSVM -0.60
- CADD 20.60
- PolyPhen-2 0.37
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Parkinsonism-dystonia, infantile; Inborn genetic diseases; not p)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0014)
- 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)