A35V (p.Ala35Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
A35V (p.Ala35Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs371414060
- ClinGen CA3205282
- ClinVar RCV002394888
- ESP rs371414060
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 9.15
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)