H30R (p.His30Arg) variant of ABCD1 (P33897)
H30R (p.His30Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- gnomAD X-153725355-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.51
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available