H30N (p.His30Asn) variant of ABCD1 (P33897)
H30N (p.His30Asn) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- gnomAD X-153725354-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.25
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available