G3A (p.Gly3Ala) variant of PCCA (P05165)
G3A (p.Gly3Ala) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- gnomAD rs1405537130
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available