A90E (p.Ala90Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
A90E (p.Ala90Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A90E (p.Ala90Glu) variant details
- p.Ala90Glu
- rs758559495
- ClinGen CA3205238
- ClinVar RCV000248770
- ExAC rs758559495
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available