P30T (p.Pro30Thr) variant of OTC (P00480)
P30T (p.Pro30Thr) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD X-38367301-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.29
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available