P69L (p.Pro69Leu) variant of PAH (Phenylalanine-4-hydroxylase)
P69L (p.Pro69Leu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs1877434841
- ClinGen CA386304208
- ClinVar RCV003496249
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)