F21C (p.Phe21Cys) variant of ASIC1 (Acid-sensing ion channel 1)
F21C (p.Phe21Cys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F21C (p.Phe21Cys) variant details
- p.Phe21Cys
- rs150732326
- gnomAD 12-50073616-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 17.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available