R43P (p.Arg43Pro) variant of ASIC1 (Acid-sensing ion channel 1)
R43P (p.Arg43Pro) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- gnomAD 12-50058894-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.55
- MetaSVM 0.21
- CADD 31.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available