T120M (p.Thr120Met) variant of MED13L (Q71F56)
T120M (p.Thr120Met) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T120M (p.Thr120Met) variant details
- p.Thr120Met
- rs765903997
- ClinGen CA6811706
- NCI-TCGA Cosmic COSV9993
- ClinVar RCV003603800
- Conflicting interpretations
- not provided; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.85
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available