N13K (p.Asn13Lys) variant of ABCD1 (P33897)
N13K (p.Asn13Lys) 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.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- gnomAD X-153725305-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.27
- CADD 8.78
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available