A62V (p.Ala62Val) variant of KCNQ2 (O43526)
A62V (p.Ala62Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Early-infantile DEE; not specified. 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.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs796052612
- ClinGen CA315336
- ClinVar RCV000187845
- ClinVar RCV002408838
- Likely benign
- Inborn genetic diseases; Early-infantile DEE; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.39
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.46
- ClinVar: Likely benign (Inborn genetic diseases; Early-infantile DEE; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)