P15L (p.Pro15Leu) variant of ASIC1 (Acid-sensing ion channel 1)
P15L (p.Pro15Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- ExAC rs749977160
- TOPMed rs749977160
- gnomAD rs749977160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.38
- MetaSVM -0.02
- CADD 25.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available