L98V (p.Leu98Val) variant of PAH (Phenylalanine-4-hydroxylase)
L98V (p.Leu98Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
L98V (p.Leu98Val) variant details
- p.Leu98Val
- rs1592978725
- ClinGen CA16020761
- ClinVar RCV000993634
- Ensembl rs1592978725
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.27
- MetaLR 0.96
- MetaSVM 1.03
- PolyPhen-2 0.53
- SIFT 0.38
- EVE 0.23
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)