Y24C (p.Tyr24Cys) variant of PAH (Phenylalanine-4-hydroxylase)
Y24C (p.Tyr24Cys) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- rs539994406
- ClinGen CA6749047
- ClinVar RCV000529284
- 1000Genomes rs539994406
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.73
- MetaLR 0.95
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.015)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)