K31E (p.Lys31Glu) variant of ABCD1 (P33897)
K31E (p.Lys31Glu) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- gnomAD X-153725357-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.41
- CADD 17.40
- PolyPhen-2 0.06
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available