E117K (p.Glu117Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
E117K (p.Glu117Lys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E117K (p.Glu117Lys) variant details
- p.Glu117Lys
- rs116128702
- ClinGen CA3205206
- NCI-TCGA Cosmic COSV5420
- ClinVar RCV000550569
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.14
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.08
- CADD 22.50
- PolyPhen-2 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)