A19V (p.Ala19Val) variant of ABCD1 (P33897)
A19V (p.Ala19Val) 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 and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs2091702943
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.41
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available