A8E (p.Ala8Glu) variant of PCCB (P05166)
A8E (p.Ala8Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 3-136250398-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available