A156V (p.Ala156Val) variant of PAH (Phenylalanine-4-hydroxylase)
A156V (p.Ala156Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A156V (p.Ala156Val) variant details
- p.Ala156Val
- rs570748767
- ClinGen CA242485507
- ClinVar RCV001979309
- 1000Genomes rs570748767
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.59
- AlphaMissense 0.10
- MetaLR 0.91
- MetaSVM 0.85
- CADD 22.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)