V13L (p.Val13Leu) variant of ASIC1 (Acid-sensing ion channel 1)
V13L (p.Val13Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- ESP rs368761955
- ExAC rs368761955
- TOPMed rs368761955
- gnomAD rs368761955
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -1.08
- CADD 16.60
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available