R3S (p.Arg3Ser) variant of KCNQ5 (Q9NR82)
R3S (p.Arg3Ser) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability, autosomal dominant 46; not provided; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs549110435
- ClinGen CA141452098
- ClinVar RCV001200473
- ClinVar RCV001252271
- Conflicting interpretations
- Intellectual disability, autosomal dominant 46; not provided; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.67
- CADD 27.50
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 46; not provided; In)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)