G53A (p.Gly53Ala) variant of CPS1 (P31327)
G53A (p.Gly53Ala) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G53A (p.Gly53Ala) variant details
- p.Gly53Ala
- rs140092912
- ClinGen CA2085953
- ClinVar RCV000997654
- ClinVar RCV002549977
- Uncertain significance
- not provided; Inborn genetic diseases; Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Congenital hyperammonemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)