A49D (p.Ala49Asp) variant of PAH (Phenylalanine-4-hydroxylase)
A49D (p.Ala49Asp) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A49D (p.Ala49Asp) variant details
- p.Ala49Asp
- rs1878253465
- ClinGen CA386302329
- ClinVar RCV001093427
- Ensembl rs1878253465
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.86
- AlphaMissense 0.35
- MetaLR 0.92
- MetaSVM 1.05
- CADD 22.60
- PolyPhen-2 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available