G8R (p.Gly8Arg) variant of KCNQ5 (Q9NR82)
G8R (p.Gly8Arg) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs191331629
- ClinGen CA3886667
- ClinVar RCV001252272
- ClinVar RCV002069337
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- 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)