A29V (p.Ala29Val) variant of ABCD1 (P33897)
A29V (p.Ala29Val) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD X-153725352-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.30
- CADD 1.53
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available