P1379L (p.Pro1379Leu) variant of MED13L (Q71F56)
P1379L (p.Pro1379Leu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
P1379L (p.Pro1379Leu) variant details
- p.Pro1379Leu
- rs2499839762
- ClinGen CA386884761
- ClinVar RCV003147951
- Likely pathogenic
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)