Q85H (p.Gln85His) variant of DNAH5 (Dynein axonemal heavy chain 5)
Q85H (p.Gln85His) 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 0.35 / 1. The record also includes population frequency data and structural context.
Q85H (p.Gln85His) variant details
- p.Gln85His
- TOPMed rs377179099
- gnomAD rs377179099
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.28
- MetaLR 0.15
- MetaSVM -0.90
- CADD 23.70
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available