I4T (p.Ile4Thr) variant of CPS1 (P31327)
I4T (p.Ile4Thr) in CPS1 (P31327) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- ExAC rs773003468
- gnomAD rs773003468
- Likely benign
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.55
- CADD 25.20
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Likely benign (Congenital hyperammonemia, type I)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available