N93D (p.Asn93Asp) variant of PAH (Phenylalanine-4-hydroxylase)
N93D (p.Asn93Asp) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N93D (p.Asn93Asp) variant details
- p.Asn93Asp
- TOPMed rs1257495145
- gnomAD rs1257495145
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.57
- MetaLR 0.80
- MetaSVM 0.20
- CADD 13.50
- SIFT 0.91
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available