L95V (p.Leu95Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
L95V (p.Leu95Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L95V (p.Leu95Val) variant details
- p.Leu95Val
- rs757542755
- ClinGen CA113968471
- ClinVar RCV001151415
- ExAC rs757542755
- Uncertain significance
- Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.00
- CADD 4.93
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Primary ciliary dyskinesia 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)