S107N (p.Ser107Asn) variant of COMP (P49747)
S107N (p.Ser107Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
S107N (p.Ser107Asn) variant details
- p.Ser107Asn
- rs1214275425
- ClinGen CA404898503
- ClinVar RCV001340935
- gnomAD rs1214275425
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- ESM-1b 0.62
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available