V11A (p.Val11Ala) variant of CPS1 (P31327)
V11A (p.Val11Ala) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- TOPMed rs1429079893
- gnomAD rs1429079893
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.36
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available