V7M (p.Val7Met) variant of PCCB (P05166)
V7M (p.Val7Met) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V7M (p.Val7Met) variant details
- p.Val7Met
- cosmic curated COSV10509
- TOPMed rs1306052988
- gnomAD rs1306052988
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available