A26V (p.Ala26Val) variant of KCNQ3 (O43525)
A26V (p.Ala26Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs2130875326
- ClinGen CA372292942
- ClinVar RCV002409898
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.34
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-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)