T219M (p.Thr219Met) variant of MED13L (Q71F56)
T219M (p.Thr219Met) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Dextro-looped transposition of the great arteries; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T219M (p.Thr219Met) variant details
- p.Thr219Met
- rs191743300
- ClinGen CA6811603
- NCI-TCGA Cosmic COSV5612
- ClinVar RCV000498832
- Conflicting interpretations
- not specified; Dextro-looped transposition of the great arteries; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available