A104D (p.Ala104Asp) variant of PAH (Phenylalanine-4-hydroxylase)
A104D (p.Ala104Asp) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A104D (p.Ala104Asp) variant details
- p.Ala104Asp
- rs62642929
- ClinGen CA229515
- ClinVar RCV000088896
- ClinVar RCV000349567
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.61
- AlphaMissense 0.82
- MetaLR 0.84
- MetaSVM 0.63
- CADD 19.00
- PolyPhen-2 0.00
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the… (PMID 9792411)