E8K (p.Glu8Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E8K (p.Glu8Lys) in ASIC1 (Acid-sensing ion channel 1) 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 0.20 / 1. The record also includes structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57317
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.21
- MetaSVM -0.80
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available