P64Q (p.Pro64Gln) variant of CPS1 (P31327)
P64Q (p.Pro64Gln) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P64Q (p.Pro64Gln) variant details
- p.Pro64Gln
- ExAC rs771683184
- gnomAD rs771683184
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.42
- CADD 19.80
- PolyPhen-2 0.34
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available