R6G (p.Arg6Gly) variant of ABCD1 (P33897)
R6G (p.Arg6Gly) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD X-153725282-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.27
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available