R17C (p.Arg17Cys) variant of ABCD1 (P33897)
R17C (p.Arg17Cys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- gnomAD rs1557052156
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- CADD 24.30
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 3.7e-05)
- Structural context available