G62D (p.Gly62Asp) variant of CPS1 (P31327)
G62D (p.Gly62Asp) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G62D (p.Gly62Asp) variant details
- p.Gly62Asp
- cosmic curated COSV10437
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available