G7E (p.Gly7Glu) variant of PCCA (P05165)
G7E (p.Gly7Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- gnomAD 13-100089140-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 18.70
- PolyPhen-2 0.19
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available