R38P (p.Arg38Pro) variant of ASIC1 (Acid-sensing ion channel 1)
R38P (p.Arg38Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- gnomAD 12-50058879-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.21
- MetaSVM -0.79
- CADD 22.90
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available