R12K (p.Arg12Lys) variant of CPS1 (P31327)
R12K (p.Arg12Lys) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- gnomAD 2-210556768-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.35
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available