R3L (p.Arg3Leu) variant of KCNQ5 (Q9NR82)
R3L (p.Arg3Leu) 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; Inborn genetic diseases; not pro. 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.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs1446827633
- ClinGen CA364823961
- ClinVar RCV003845254
- ClinVar RCV004366917
- Conflicting interpretations
- Intellectual disability, autosomal dominant 46; Inborn genetic diseases; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.74
- CADD 29.50
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 46; Inborn genetic d)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)