D127V (p.Asp127Val) variant of COMP (P49747)
D127V (p.Asp127Val) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D127V (p.Asp127Val) variant details
- p.Asp127Val
- TOPMed rs1209079062
- gnomAD rs1209079062
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available