G100R (p.Gly100Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
G100R (p.Gly100Arg) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs764244707
- ClinGen CA3205216
- NCI-TCGA Cosmic COSV5421
- ClinVar RCV003084300
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.08
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.18
- 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)