P2A (p.Pro2Ala) variant of ABCD1 (P33897)
P2A (p.Pro2Ala) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- gnomAD X-153725270-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available