P135S (p.Pro135Ser) variant of COMP (P49747)
P135S (p.Pro135Ser) 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 0.70 / 1. The record also includes population frequency data and structural context.
P135S (p.Pro135Ser) variant details
- p.Pro135Ser
- rs2512853331
- ClinGen CA404896712
- ClinVar RCV003827772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available