A165P (p.Ala165Pro) variant of PAH (Phenylalanine-4-hydroxylase)
A165P (p.Ala165Pro) 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 Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A165P (p.Ala165Pro) variant details
- p.Ala165Pro
- rs199475626
- ClinGen CA229581
- ClinVar RCV000088949
- ClinVar RCV000672775
- Uncertain significance
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Phenylketonuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)