F21L (p.Phe21Leu) variant of ASIC1 (Acid-sensing ion channel 1)
F21L (p.Phe21Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- gnomAD 12-50073615-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 14.20
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available