P2Q (p.Pro2Gln) variant of ABCD1 (P33897)
P2Q (p.Pro2Gln) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- gnomAD X-153725271-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.22
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available