A22T (p.Ala22Thr) variant of ASIC1 (Acid-sensing ion channel 1)
A22T (p.Ala22Thr) 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 0.66 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- NCI-TCGA Cosmic COSV5732
- cosmic curated COSV57320
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.51
- MetaSVM 0.28
- CADD 26.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available