D79H (p.Asp79His) variant of MED13L (Q71F56)
D79H (p.Asp79His) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D79H (p.Asp79His) variant details
- p.Asp79His
- ExAC rs750733518
- TOPMed rs750733518
- gnomAD rs750733518
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 23.70
- PolyPhen-2 0.38
- SIFT 0.03
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available