V22G (p.Val22Gly) variant of ASS1 (Argininosuccinate synthase)
V22G (p.Val22Gly) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V22G (p.Val22Gly) variant details
- p.Val22Gly
- rs912037125
- ClinGen CA200603554
- cosmic curated COSV61688
- ClinVar RCV003067066
- Uncertain significance
- Citrullinemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.88
- CADD 24.80
- PolyPhen-2 0.63
- SIFT 0.35
- ClinVar: Uncertain significance (Citrullinemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)