L37P (p.Leu37Pro) variant of PAH (Phenylalanine-4-hydroxylase)
L37P (p.Leu37Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs869312996
- ClinGen CA357242
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.02
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)