E18K (p.Glu18Lys) variant of USH1C (Harmonin)
E18K (p.Glu18Lys) in USH1C (Harmonin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- cosmic curated COSV50019
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- CADD 25.50
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.819