N13Y (p.Asn13Tyr) variant of ABCD1 (P33897)
N13Y (p.Asn13Tyr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N13Y (p.Asn13Tyr) variant details
- p.Asn13Tyr
- gnomAD X-153725303-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available