G24E (p.Gly24Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
G24E (p.Gly24Glu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs1530496
- ClinGen CA175811
- ClinVar RCV000150490
- ClinVar RCV000347580
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- MetaLR 0.00
- MetaSVM -0.94
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs1530496)
- UniProt: Benign (in dbSNP:rs1530496)
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)