E37Q (p.Glu37Gln) variant of PCCB (P05166)
E37Q (p.Glu37Gln) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- gnomAD 3-136250484-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.57
- ESM-1b 0.45
- AlphaMissense 0.09
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available