A13G (p.Ala13Gly) variant of OTC (P00480)
A13G (p.Ala13Gly) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- gnomAD X-38352734-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.36
- MetaLR 0.84
- MetaSVM 0.43
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available