V41F (p.Val41Phe) variant of CPS1 (P31327)
V41F (p.Val41Phe) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- rs148708735
- ClinGen CA2085938
- ClinVar RCV000803314
- ClinVar RCV003258979
- Conflicting interpretations
- Inborn genetic diseases; Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00043)
- 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)