A29E (p.Ala29Glu) variant of PCCA (P05165)
A29E (p.Ala29Glu) 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.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- gnomAD 13-100089206-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available