M1V (p.Met1Val) variant of MED13L (Q71F56)
M1V (p.Met1Val) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1131691818
- ClinGen CA386928015
- ClinVar RCV000493631
- ClinVar RCV001249234
- Pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- ESM-1b 1.00
- AlphaMissense 0.34
- ClinVar: Pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)