S146T (p.Ser146Thr) variant of COMP (P49747)
S146T (p.Ser146Thr) in COMP (P49747) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S146T (p.Ser146Thr) variant details
- p.Ser146Thr
- TOPMed rs1311065591
- gnomAD rs1311065591
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.07
- CADD 19.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available