S19N (p.Ser19Asn) variant of PCCB (P05166)
S19N (p.Ser19Asn) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- gnomAD 3-136250431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.28
- ESM-1b 0.04
- AlphaMissense 0.16
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available