S19I (p.Ser19Ile) variant of PCCB (P05166)
S19I (p.Ser19Ile) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- gnomAD 3-136250431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.39
- ESM-1b 0.89
- AlphaMissense 0.18
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available