A5V (p.Ala5Val) variant of ASIC1 (Acid-sensing ion channel 1)
A5V (p.Ala5Val) 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 0.15 / 1. The record also includes structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -0.98
- SIFT 0.87
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available