D84N (p.Asp84Asn) variant of PAH (Phenylalanine-4-hydroxylase)
D84N (p.Asp84Asn) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- rs62514902
- ClinGen CA386304125
- ClinVar RCV003599346
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.53
- MetaLR 0.95
- MetaSVM 0.91
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.07
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)