G18E (p.Gly18Glu) variant of PCCA (P05165)
G18E (p.Gly18Glu) in PCCA (P05165) 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.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- gnomAD rs1172760709
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 5.9e-05)
- Structural context available