Q38R (p.Gln38Arg) variant of ABCD1 (P33897)
Q38R (p.Gln38Arg) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q38R (p.Gln38Arg) variant details
- p.Gln38Arg
- gnomAD X-153725379-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.29
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available