R71P (p.Arg71Pro) variant of PAH (Phenylalanine-4-hydroxylase)
R71P (p.Arg71Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R71P (p.Arg71Pro) variant details
- p.Arg71Pro
- rs62508695
- ClinGen CA16020749
- ClinVar RCV001994069
- TOPMed rs62508695
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.09
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.94
- SIFT 0.04
- EVE 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)