A4E (p.Ala4Glu) variant of PCCB (P05166)
A4E (p.Ala4Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD 3-136250386-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 14.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available