I56V (p.Ile56Val) variant of MED13L (Q71F56)
I56V (p.Ile56Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- rs777432809
- ClinGen CA6811808
- ClinVar RCV003086558
- ExAC rs777432809
- Benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.80
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Benign (Dextro-looped transposition of the great arteries)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available