A373D (p.Ala373Asp) variant of PAH (Phenylalanine-4-hydroxylase)
A373D (p.Ala373Asp) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A373D (p.Ala373Asp) variant details
- p.Ala373Asp
- rs1874694965
- ClinGen CA16020943
- NCI-TCGA Cosmic COSV6101
- ClinVar RCV001199986
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)