K42R (p.Lys42Arg) variant of PAH (Phenylalanine-4-hydroxylase)
K42R (p.Lys42Arg) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- rs62635346
- ClinGen CA6749044
- ClinVar RCV002019669
- ExAC rs62635346
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.60
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.92
- CADD 22.70
- PolyPhen-2 0.00
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)