R8G (p.Arg8Gly) variant of ABCD1 (P33897)
R8G (p.Arg8Gly) in ABCD1 (P33897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs2148388526
- gnomAD X-153725284-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available