K42I (p.Lys42Ile) variant of PAH (Phenylalanine-4-hydroxylase)
K42I (p.Lys42Ile) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
K42I (p.Lys42Ile) variant details
- p.Lys42Ile
- rs62635346
- ClinGen CA229419
- cosmic curated COSV61017
- ClinVar RCV000088819
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.92
- PolyPhen-2 0.00
- SIFT 0.46
- EVE 0.14
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)