S5F (p.Ser5Phe) variant of ABCD1 (P33897)
S5F (p.Ser5Phe) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD X-153725280-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available