V20M (p.Val20Met) variant of ABCD1 (P33897)
V20M (p.Val20Met) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- gnomAD X-153725324-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- CADD 18.30
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available