R43R (p.Arg43Arg) variant of ASIC1 (Acid-sensing ion channel 1)
R43R (p.Arg43Arg) in ASIC1 (Acid-sensing ion channel 1) is a synonymous 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.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- gnomAD 12-50073740-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 7.63
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available