A18E (p.Ala18Glu) variant of PCCB (P05166)
A18E (p.Ala18Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 3-136250428-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 6.94
- PolyPhen-2 0.05
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available