M34T (p.Met34Thr) variant of ORC1 (Q13415)
M34T (p.Met34Thr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- rs121908533
- gnomAD 13-40799111-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Cited in: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. (PMID 22649802)
- Cited in: Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)… (PMID 19242930)