Q67R (p.Gln67Arg) variant of SLC12A1 (Q13621)
Q67R (p.Gln67Arg) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Bartter disease type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q67R (p.Gln67Arg) variant details
- p.Gln67Arg
- rs139471047
- ClinGen CA7546704
- ClinVar RCV001806946
- ClinVar RCV005006066
- Conflicting interpretations
- not provided; Bartter disease type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bartter disease type 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.015)
- 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)