T19M (p.Thr19Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
T19M (p.Thr19Met) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T19M (p.Thr19Met) variant details
- p.Thr19Met
- rs757712771
- ClinGen CA3205305
- ClinVar RCV000553255
- ClinVar RCV001154437
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.04
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)