N93D (p.Asn93Asp) variant of MED13L (Q71F56)
N93D (p.Asn93Asp) 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 0.37 / 1. The record also includes population frequency data and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- rs771759533
- ClinGen CA6811796
- ClinVar RCV002666579
- ExAC rs771759533
- Benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.24
- ClinVar: Benign (Dextro-looped transposition of the great arteries)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available