L123F (p.Leu123Phe) variant of DNAH5 (Dynein axonemal heavy chain 5)
L123F (p.Leu123Phe) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L123F (p.Leu123Phe) variant details
- p.Leu123Phe
- rs148017278
- ClinGen CA3205201
- ClinVar RCV000232369
- ClinVar RCV001095094
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.04
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)