A313V (p.Ala313Val) variant of PAH (Phenylalanine-4-hydroxylase)
A313V (p.Ala313Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A313V (p.Ala313Val) variant details
- p.Ala313Val
- rs62642914
- ClinGen CA229861
- ClinVar RCV000089167
- ClinVar RCV001857434
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.92
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)