T63A (p.Thr63Ala) variant of PAH (Phenylalanine-4-hydroxylase)
T63A (p.Thr63Ala) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T63A (p.Thr63Ala) variant details
- p.Thr63Ala
- gnomAD rs199475568
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.59
- MetaLR 0.95
- MetaSVM 1.24
- CADD 22.60
- SIFT 0.22
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available