H12Q (p.His12Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
H12Q (p.His12Gln) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- rs339445
- ClinGen CA182954
- ClinVar RCV000155520
- ClinVar RCV000303227
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.98
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs339445)
- UniProt: Benign (in dbSNP:rs339445)
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)