M56V (p.Met56Val) variant of CPS1 (P31327)
M56V (p.Met56Val) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- gnomAD 2-210573337-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.53
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available