N119K (p.Asn119Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
N119K (p.Asn119Lys) 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 0.20 / 1. The record also includes population frequency data and structural context.
N119K (p.Asn119Lys) variant details
- p.Asn119Lys
- TOPMed rs1026473277
- gnomAD rs1026473277
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.99
- CADD 3.56
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available