S5P (p.Ser5Pro) variant of ABCD1 (P33897)
S5P (p.Ser5Pro) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD X-153725279-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available