K16N (p.Lys16Asn) variant of ABCD1 (P33897)
K16N (p.Lys16Asn) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- TOPMed rs1378887547
- gnomAD rs1378887547
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.25
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.47
- Population evidence available
- Structural context available