L52S (p.Leu52Ser) variant of PAH (Phenylalanine-4-hydroxylase)
L52S (p.Leu52Ser) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L52S (p.Leu52Ser) variant details
- p.Leu52Ser
- rs199475630
- ClinGen CA229443
- ClinVar RCV000088840
- ClinVar RCV001389300
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)