L38P (p.Leu38Pro) variant of MEF2C (Q06413)
L38P (p.Leu38Pro) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- rs397514655
- ClinGen CA360425096
- ClinVar RCV000622665
- ClinVar RCV003139948
- Pathogenic
- Inborn genetic diseases; Neurodevelopmental disorder with hypotonia, stereotypic
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; Neurodevelopmental disorder with hypoto)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)