D59V (p.Asp59Val) variant of PAH (Phenylalanine-4-hydroxylase)
D59V (p.Asp59Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D59V (p.Asp59Val) variant details
- p.Asp59Val
- rs199475672
- ClinGen CA16020736
- NCI-TCGA Cosmic COSV6102
- cosmic curated COSV61020
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.75
- AlphaMissense 0.22
- MetaLR 0.93
- MetaSVM 0.89
- CADD 21.30
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)