G12V (p.Gly12Val) variant of ABCD1 (P33897)
G12V (p.Gly12Val) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD X-153725301-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.26
- CADD 4.68
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available