A58T (p.Ala58Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
A58T (p.Ala58Thr) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- rs770299088
- ClinGen CA3205270
- ClinVar RCV003841539
- ExAC rs770299088
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.06
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.08
- 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)