R43K (p.Arg43Lys) variant of ASIC1 (Acid-sensing ion channel 1)
R43K (p.Arg43Lys) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R43K (p.Arg43Lys) variant details
- p.Arg43Lys
- gnomAD 12-50073739-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 3.73
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available