A36V (p.Ala36Val) variant of KCNQ3 (O43525)
A36V (p.Ala36Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs1822523352
- ClinGen CA372292882
- ClinVar RCV002424281
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-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)