Q38H (p.Gln38His) variant of ABCD1 (P33897)
Q38H (p.Gln38His) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q38H (p.Gln38His) variant details
- p.Gln38His
- gnomAD X-153725380-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.26
- CADD 9.47
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available