R71H (p.Arg71His) variant of PAH (Phenylalanine-4-hydroxylase)
R71H (p.Arg71His) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R71H (p.Arg71His) variant details
- p.Arg71His
- rs62508695
- ClinGen CA286499
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61019
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.75
- AlphaMissense 0.09
- MetaLR 0.95
- MetaSVM 1.06
- CADD 24.50
- PolyPhen-2 0.94
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)