L3P (p.Leu3Pro) variant of ASIC1 (Acid-sensing ion channel 1)
L3P (p.Leu3Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- gnomAD 12-50058774-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.34
- MetaSVM -0.73
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available