Q23E (p.Gln23Glu) variant of PCCA (P05165)
Q23E (p.Gln23Glu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- gnomAD 13-100089187-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available