A313T (p.Ala313Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A313T (p.Ala313Thr) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 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.
A313T (p.Ala313Thr) variant details
- p.Ala313Thr
- rs62642912
- ClinGen CA229859
- ClinVar RCV000089166
- ClinVar RCV000669990
- Conflicting interpretations
- not provided; Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Phenylketonuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)