A300V (p.Ala300Val) variant of PAH (Phenylalanine-4-hydroxylase)
A300V (p.Ala300Val) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
A300V (p.Ala300Val) variant details
- p.Ala300Val
- rs199475609
- ClinGen CA229839
- ClinVar RCV000089149
- ClinVar RCV000669088
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.99
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)