T28M (p.Thr28Met) variant of MED13L (Q71F56)
T28M (p.Thr28Met) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T28M (p.Thr28Met) variant details
- p.Thr28Met
- rs563883392
- ClinGen CA6811824
- NCI-TCGA Cosmic COSV5611
- ClinVar RCV002629867
- Likely benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available