Q38K (p.Gln38Lys) variant of ABCD1 (P33897)
Q38K (p.Gln38Lys) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q38K (p.Gln38Lys) variant details
- p.Gln38Lys
- gnomAD X-153725378-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.31
- CADD 8.70
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available