V45A (p.Val45Ala) variant of PAH (Phenylalanine-4-hydroxylase)
V45A (p.Val45Ala) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs1592988883
- ClinGen CA16020730
- ClinVar RCV000993626
- UniProt VAR 067994
- Uncertain significance
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.70
- MetaLR 0.91
- MetaSVM 0.87
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.07
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. (PMID 22513348)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)