C39S (p.Cys39Ser) variant of ABCD1 (P33897)
C39S (p.Cys39Ser) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C39S (p.Cys39Ser) variant details
- p.Cys39Ser
- gnomAD X-153725382-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.23
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available