T3I (p.Thr3Ile) variant of PAH (Phenylalanine-4-hydroxylase)
T3I (p.Thr3Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- TOPMed rs1451895979
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.50
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available