L22P (p.Leu22Pro) variant of ABCD1 (P33897)
L22P (p.Leu22Pro) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD X-153725331-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.72
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available