M21V (p.Met21Val) variant of OTC (P00480)
M21V (p.Met21Val) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs755909408
- ClinGen CA10385771
- ClinVar RCV002095578
- ExAC rs755909408
- Likely benign
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.24
- MetaLR 0.78
- MetaSVM 0.45
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Likely benign (Ornithine carbamoyltransferase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)