E96K (p.Glu96Lys) variant of USH1C (Harmonin)
E96K (p.Glu96Lys) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E96K (p.Glu96Lys) variant details
- p.Glu96Lys
- rs769420899
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50014
- NCI-TCGA Cosmic COSV9914
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.12
- AlphaMissense 0.31
- MetaLR 0.09
- MetaSVM -1.08
- CADD 28.40
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available