T63I (p.Thr63Ile) variant of PAH (Phenylalanine-4-hydroxylase)
T63I (p.Thr63Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T63I (p.Thr63Ile) variant details
- p.Thr63Ile
- Ensembl rs989506392
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.66
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.00
- PolyPhen-2 0.76
- SIFT 0.23
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available