H30Y (p.His30Tyr) variant of ABCD1 (P33897)
H30Y (p.His30Tyr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- gnomAD X-153725354-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.36
- CADD 19.70
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available