P2S (p.Pro2Ser) variant of ABCD1 (P33897)
P2S (p.Pro2Ser) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD X-153725270-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available