K55T (p.Lys55Thr) variant of CPS1 (P31327)
K55T (p.Lys55Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K55T (p.Lys55Thr) variant details
- p.Lys55Thr
- gnomAD 2-210573335-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.45
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available