D142E (p.Asp142Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
D142E (p.Asp142Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D142E (p.Asp142Glu) variant details
- p.Asp142Glu
- rs1180629207
- TOPMed rs1180629207
- gnomAD rs1180629207
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.19
- MetaLR 0.01
- MetaSVM -0.97
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- UniProt: Likely benign
- Population evidence available
- Structural context available