F41L (p.Phe41Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
F41L (p.Phe41Leu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- rs149569720
- ClinGen CA3205279
- ClinVar RCV003650168
- ESP rs149569720
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.02
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)