P7A (p.Pro7Ala) variant of ABCD1 (P33897)
P7A (p.Pro7Ala) 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.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD X-153725285-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.23
- CADD 0.32
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the African/African-American population (allele frequency 4.2e-05)
- Structural context available
- Literature evidence available