A246V (p.Ala246Val) variant of PAH (Phenylalanine-4-hydroxylase)
A246V (p.Ala246Val) 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.
A246V (p.Ala246Val) variant details
- p.Ala246Val
- rs199475610
- ClinGen CA229727
- ClinVar RCV000089068
- ClinVar RCV000673258
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.98
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)