C39R (p.Cys39Arg) variant of ABCD1 (P33897)
C39R (p.Cys39Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C39R (p.Cys39Arg) variant details
- p.Cys39Arg
- gnomAD X-153725381-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.23
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available