P3A (p.Pro3Ala) variant of COMP (P49747)
P3A (p.Pro3Ala) in COMP (P49747) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
P3A (p.Pro3Ala) variant details
- p.Pro3Ala
- ExAC rs747780884
- TOPMed rs747780884
- gnomAD rs747780884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available