C47S (p.Cys47Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
C47S (p.Cys47Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C47S (p.Cys47Ser) variant details
- p.Cys47Ser
- ESP rs374796461
- ExAC rs374796461
- gnomAD rs374796461
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.07
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available