M1L (p.Met1Leu) variant of MED13L (Q71F56)
M1L (p.Met1Leu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Global developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1131691818
- ClinGen CA386928014
- ClinVar RCV001526632
- Likely pathogenic
- Global developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- ESM-1b 1.00
- AlphaMissense 0.45
- ClinVar: Likely pathogenic (Global developmental delay)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an… (PMID 34211152)