E54K (p.Glu54Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
E54K (p.Glu54Lys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- rs866784113
- NCI-TCGA Cosmic COSV5420
- gnomAD rs866784113
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available