M12V (p.Met12Val) variant of MEF2C (Q06413)
M12V (p.Met12Val) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Neurodevelopmental disorder with hypotoni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M12V (p.Met12Val) variant details
- p.Met12Val
- rs965091526
- ClinGen CA122618651
- ClinVar RCV001296853
- ClinVar RCV001785807
- Uncertain significance
- not provided; Inborn genetic diseases; Neurodevelopmental disorder with hypotoni
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- CADD 19.10
- PolyPhen-2 0.14
- SIFT 0.66
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Neurodevelopmental disord)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)