G50V (p.Gly50Val) variant of OTC (P00480)
G50V (p.Gly50Val) in OTC (P00480) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in OTCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- ExAC rs201802621
- TOPMed rs201802621
- gnomAD rs201802621
- Likely benign
- in OTCD
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.66
- MetaLR 0.76
- MetaSVM 0.59
- CADD 21.80
- PolyPhen-2 0.23
- SIFT 0.20
- EBI: Likely benign (in OTCD)
- UniProt: Likely benign (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available