L62V (p.Leu62Val) variant of PAH (Phenylalanine-4-hydroxylase)
L62V (p.Leu62Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- rs1565866640
- ClinGen CA16020738
- ClinVar RCV000758095
- Ensembl rs1565866640
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.25
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 0.58
- SIFT 0.35
- EVE 0.19
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)