G99E (p.Gly99Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
G99E (p.Gly99Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. 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.
G99E (p.Gly99Glu) variant details
- p.Gly99Glu
- gnomAD rs1396433480
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available