K42R (p.Lys42Arg) variant of CPS1 (P31327)
K42R (p.Lys42Arg) 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 and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- gnomAD rs1470087353
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.35
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available