D86G (p.Asp86Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
D86G (p.Asp86Gly) in DNAH5 (Dynein axonemal heavy chain 5) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D86G (p.Asp86Gly) variant details
- p.Asp86Gly
- rs147441805
- ClinGen CA3205240
- ClinVar RCV000468468
- ESP rs147441805
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.08
- CADD 24.70
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)