G3E (p.Gly3Glu) variant of PCCA (P05165)
G3E (p.Gly3Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- gnomAD 13-100089128-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.53
- ESM-1b 0.06
- AlphaMissense 0.26
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available