A25T (p.Ala25Thr) variant of CPS1 (P31327)
A25T (p.Ala25Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- cosmic curated COSV51821
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.31
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available