K15K (p.Lys15Lys) variant of CPS1 (P31327)
K15K (p.Lys15Lys) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K15K (p.Lys15Lys) variant details
- p.Lys15Lys
- rs1391510696
- gnomAD 2-210556778-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 10.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available