D42H (p.Asp42His) variant of MED13L (Q71F56)
D42H (p.Asp42His) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- gnomAD rs1247142719
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 25.50
- PolyPhen-2 0.69
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available