E56D (p.Glu56Asp) variant of DNAH5 (Dynein axonemal heavy chain 5)
E56D (p.Glu56Asp) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- rs887537972
- TOPMed rs887537972
- gnomAD rs887537972
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -0.98
- CADD 22.50
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available