P15S (p.Pro15Ser) variant of ASIC1 (Acid-sensing ion channel 1)
P15S (p.Pro15Ser) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- gnomAD 12-50058809-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.44
- MetaSVM -0.05
- CADD 24.80
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Literature evidence available