Y27F (p.Tyr27Phe) variant of ABCD1 (P33897)
Y27F (p.Tyr27Phe) in ABCD1 (P33897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y27F (p.Tyr27Phe) variant details
- p.Tyr27Phe
- gnomAD X-153725346-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.60
- CADD 24.20
- PolyPhen-2 0.71
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available