V140I (p.Val140Ile) variant of MED13L (Q71F56)
V140I (p.Val140Ile) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
V140I (p.Val140Ile) variant details
- p.Val140Ile
- 1000Genomes rs137898753
- ESP rs137898753
- ExAC rs137898753
- TOPMed rs137898753
- Likely benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.17
- ClinVar: Likely benign (Dextro-looped transposition of the great arteries)
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available