S7* (p.Ser7Ter) variant of CHM (P24386)
S7* (p.Ser7Ter) in CHM (P24386) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- rs1357495676
- ClinGen CA413788693
- ClinVar RCV003560266
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.16
- MetaLR 0.58
- MetaSVM 0.15
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.58
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available