A3E (p.Ala3Glu) variant of PCCB (P05166)
A3E (p.Ala3Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 3-136250383-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 22.20
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available