A33G (p.Ala33Gly) variant of KCNQ3 (O43525)
A33G (p.Ala33Gly) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- rs761196042
- ClinGen CA315660
- ClinVar RCV003353439
- ExAC rs761196042
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- 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)