P879L (p.Pro879Leu) variant of MED13L (Q71F56)
P879L (p.Pro879Leu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Cardiac anomalies - developmental delay - facial dysmorphism syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes structural context.
P879L (p.Pro879Leu) variant details
- p.Pro879Leu
- rs1064795068
- ClinGen CA16619443
- ClinVar RCV000483885
- Ensembl rs1064795068
- Likely pathogenic
- not provided; Cardiac anomalies - developmental delay - facial dysmorphism syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- ESM-1b 0.00
- AlphaMissense 0.84
- ClinVar: Likely pathogenic (not provided; Cardiac anomalies - developmental delay - facial d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available