H32R (p.His32Arg) variant of ASIC1 (Acid-sensing ion channel 1)
H32R (p.His32Arg) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- gnomAD 12-50058861-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.28
- MetaSVM -0.65
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available