L1548P (p.Leu1548Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
L1548P (p.Leu1548Pro) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
L1548P (p.Leu1548Pro) variant details
- p.Leu1548Pro
- rs1768634470
- ClinGen CA359222305
- ClinVar RCV001078445
- Ensembl rs1768634470
- Likely pathogenic
- Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)