V121A (p.Val121Ala) variant of DNAH5 (Dynein axonemal heavy chain 5)
V121A (p.Val121Ala) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia; Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V121A (p.Val121Ala) variant details
- p.Val121Ala
- rs752992572
- ClinGen CA3205202
- ClinVar RCV001156829
- ClinVar RCV002558367
- Conflicting interpretations
- Primary ciliary dyskinesia; Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.09
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia; Primary ciliary dyskinesia 3)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)