R6M (p.Arg6Met) variant of ABCD1 (P33897)
R6M (p.Arg6Met) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R6M (p.Arg6Met) variant details
- p.Arg6Met
- gnomAD X-153725283-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.28
- CADD 4.13
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available