K64Q (p.Lys64Gln) variant of OTC (P00480)
K64Q (p.Lys64Gln) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
K64Q (p.Lys64Gln) variant details
- p.Lys64Gln
- gnomAD X-38367403-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available