A19T (p.Ala19Thr) variant of ABCD1 (P33897)
A19T (p.Ala19Thr) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD X-153725321-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.49
- CADD 17.80
- PolyPhen-2 0.34
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available