A103V (p.Ala103Val) variant of MEF2C (Q06413)
A103V (p.Ala103Val) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- rs755436703
- ClinGen CA3337341
- ClinVar RCV000419451
- ClinVar RCV001861501
- Conflicting interpretations
- Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.38
- CADD 29.60
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Neurodevelopmental disorder with hypoto)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)