M56T (p.Met56Thr) variant of CPS1 (P31327)
M56T (p.Met56Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- gnomAD 2-210573338-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.89
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available