Q20L (p.Gln20Leu) variant of PAH (Phenylalanine-4-hydroxylase)
Q20L (p.Gln20Leu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q20L (p.Gln20Leu) variant details
- p.Gln20Leu
- rs199475662
- ClinGen CA229641
- ClinVar RCV000088998
- ClinVar RCV000993617
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.58
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.45
- CADD 23.60
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)