G15E (p.Gly15Glu) variant of PCCA (P05165)
G15E (p.Gly15Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G15E (p.Gly15Glu) variant details
- p.Gly15Glu
- gnomAD 13-100089164-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.10
- PolyPhen-2 0.34
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available