K107Q (p.Lys107Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
K107Q (p.Lys107Gln) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The record also includes variant effect predictions and structural context.
K107Q (p.Lys107Gln) variant details
- p.Lys107Gln
- NCI-TCGA Cosmic COSV9945
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- MetaLR 0.06
- MetaSVM -1.10
- SIFT 0.03
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- UniProt: Uncertain significance
- Structural context available