L45P (p.Leu45Pro) variant of ASIC1 (Acid-sensing ion channel 1)
L45P (p.Leu45Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- ExAC rs768700646
- gnomAD rs768700646
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.53
- MetaSVM 0.25
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available