E52K (p.Glu52Lys) variant of USH1C (Harmonin)
E52K (p.Glu52Lys) in USH1C (Harmonin) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50039
- Ensembl rs1850980408
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 0.29
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.98