S32L (p.Ser32Leu) variant of CPS1 (P31327)
S32L (p.Ser32Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- cosmic curated COSV10508
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.44
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available