S5C (p.Ser5Cys) variant of ABCD1 (P33897)
S5C (p.Ser5Cys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- ExAC rs782061571
- gnomAD rs782061571
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.1e-05)
- Structural context available