C39F (p.Cys39Phe) variant of ABCD1 (P33897)
C39F (p.Cys39Phe) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C39F (p.Cys39Phe) variant details
- p.Cys39Phe
- gnomAD X-153725382-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.28
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available