P87T (p.Pro87Thr) variant of COMP (P49747)
P87T (p.Pro87Thr) 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 0.42 / 1. The record also includes population frequency data and structural context.
P87T (p.Pro87Thr) variant details
- p.Pro87Thr
- gnomAD rs1323242949
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.30
- ESM-1b 0.08
- AlphaMissense 0.08
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available