H30H (p.His30His) variant of ABCD1 (P33897)
H30H (p.His30His) in ABCD1 (P33897) is a synonymous 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.
H30H (p.His30His) variant details
- p.His30His
- rs782195097
- gnomAD X-153725356-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 9.06
- Population evidence available
- Structural context available
- Literature evidence available