M21T (p.Met21Thr) variant of OTC (P00480)
M21T (p.Met21Thr) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M21T (p.Met21Thr) variant details
- p.Met21Thr
- rs749285675
- ClinGen CA10385773
- ClinVar RCV003420887
- ClinVar RCV004011305
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.37
- MetaLR 0.85
- MetaSVM 0.55
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)