L40V (p.Leu40Val) variant of ABCD1 (P33897)
L40V (p.Leu40Val) 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.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD X-153725384-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- CADD 12.40
- PolyPhen-2 0.06
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available