E37K (p.Glu37Lys) variant of ASIC1 (Acid-sensing ion channel 1)
E37K (p.Glu37Lys) 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 0.46 / 1. The record also includes population frequency data and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs1025157825
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57319
- TOPMed rs1025157825
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.16
- MetaSVM -0.84
- CADD 23.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Structural context available