R53H (p.Arg53His) variant of PAH (Phenylalanine-4-hydroxylase)
R53H (p.Arg53His) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs118092776
- ClinGen CA229447
- cosmic curated COSV61020
- ClinVar RCV000088842
- Benign
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.79
- MetaLR 0.90
- MetaSVM 0.74
- CADD 23.00
- PolyPhen-2 0.41
- SIFT 0.11
- EBI: Benign (in PAH deficiency)
- UniProt: Benign (in PAH deficiency)
- Most common in the HGDP:JAPANESE population (allele frequency 0.14)
- Structural context available
- Cited in: Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. (PMID 9452061)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)