P15R (p.Pro15Arg) variant of ASIC1 (Acid-sensing ion channel 1)
P15R (p.Pro15Arg) in ASIC1 (Acid-sensing ion channel 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs749977160
- ClinGen CA6560486
- ClinVar RCV004172779
- ExAC rs749977160
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.38
- MetaSVM -0.18
- CADD 25.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available