S180T (p.Ser180Thr) variant of MED13L (Q71F56)
S180T (p.Ser180Thr) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
S180T (p.Ser180Thr) variant details
- p.Ser180Thr
- rs1216800188
- ClinGen CA386872308
- ClinVar RCV003887835
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.21
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)