G28V (p.Gly28Val) variant of ABCD1 (P33897)
G28V (p.Gly28Val) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- gnomAD X-153725349-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.72
- CADD 23.20
- PolyPhen-2 0.59
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available