H26Y (p.His26Tyr) variant of CPS1 (P31327)
H26Y (p.His26Tyr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- gnomAD 2-210556809-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.27
- CADD 4.76
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available