V71I (p.Val71Ile) variant of MED13L (Q71F56)
V71I (p.Val71Ile) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V71I (p.Val71Ile) variant details
- p.Val71Ile
- rs755079872
- ClinGen CA6811804
- ClinVar RCV003497791
- ExAC rs755079872
- Benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign (Dextro-looped transposition of the great arteries)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available