N13H (p.Asn13His) variant of ABCD1 (P33897)
N13H (p.Asn13His) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N13H (p.Asn13His) variant details
- p.Asn13His
- gnomAD X-153725303-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.14
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available