R8Q (p.Arg8Gln) variant of ABCD1 (P33897)
R8Q (p.Arg8Gln) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD X-153725289-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.25
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available