P34H (p.Pro34His) variant of ABCD1 (P33897)
P34H (p.Pro34His) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- gnomAD X-153725367-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.70
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available