E82K (p.Glu82Lys) variant of HCN1 (O60741)
E82K (p.Glu82Lys) in HCN1 (O60741) 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 0.39 / 1. The record also includes population frequency data and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57517
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.26
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available