G11W (p.Gly11Trp) variant of PCCB (P05166)
G11W (p.Gly11Trp) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G11W (p.Gly11Trp) variant details
- p.Gly11Trp
- gnomAD 3-136250406-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available