T30I (p.Thr30Ile) variant of ORC1 (Q13415)

Name: ORC1 T30I (p.Thr30Ile) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

T30I (p.Thr30Ile) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.

T30I (p.Thr30Ile) variant details

p.Thr30Ile
rs121908536
gnomAD 13-40799096-C-T
Missense
Variant Prioritization Score for Impact Estimate 0.758
REVEL 0.75
CADD 24.70
PolyPhen-2 0.96
SIFT 0.00
Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
Structural context available
Cited in: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. (PMID 22649802)
Cited in: Clinical and functional characterization of a human ORNT1 mutation (T32R) in the… (PMID 16940241)