K27N (p.Lys27Asn) variant of SLC6A3 (Q01959)
K27N (p.Lys27Asn) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K27N (p.Lys27Asn) variant details
- p.Lys27Asn
- rs915327713
- ClinGen CA112969975
- ClinVar RCV001898713
- ClinVar RCV005729586
- Uncertain significance
- Parkinsonism-dystonia, infantile; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.20
- MetaLR 0.39
- MetaSVM -0.41
- CADD 23.10
- PolyPhen-2 0.73
- SIFT 0.10
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)