I68V (p.Ile68Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
I68V (p.Ile68Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I68V (p.Ile68Val) variant details
- p.Ile68Val
- ExAC rs748958538
- TOPMed rs748958538
- gnomAD rs748958538
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.06
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available