T6I (p.Thr6Ile) variant of CPS1 (P31327)
T6I (p.Thr6Ile) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- rs144889339
- ClinGen CA2085926
- ClinVar RCV003871874
- ESP rs144889339
- Likely benign
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (Congenital hyperammonemia, type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)