S146N (p.Ser146Asn) variant of COMP (P49747)
S146N (p.Ser146Asn) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S146N (p.Ser146Asn) variant details
- p.Ser146Asn
- rs1311065591
- ClinGen CA404896506
- ClinVar RCV001001200
- TOPMed rs1311065591
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 0.17
- SIFT 0.39
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available