G29S (p.Gly29Ser) variant of ASIC1 (Acid-sensing ion channel 1)
G29S (p.Gly29Ser) 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 0.88 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs754524092
- NCI-TCGA Cosmic COSV5731
- cosmic curated COSV57317
- ExAC rs754524092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.80
- CADD 26.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available