V22V (p.Val22Val) variant of OTC (P00480)
V22V (p.Val22Val) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V22V (p.Val22Val) variant details
- p.Val22Val
- rs1237799169
- gnomAD X-38352762-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 6.05
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available