T124S (p.Thr124Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
T124S (p.Thr124Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T124S (p.Thr124Ser) variant details
- p.Thr124Ser
- TOPMed rs1298981026
- gnomAD rs1298981026
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.08
- CADD 10.20
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available