Q76H (p.Gln76His) variant of COMP (P49747)
Q76H (p.Gln76His) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q76H (p.Gln76His) variant details
- p.Gln76His
- rs2055201328
- ClinGen CA404898948
- ClinVar RCV001935812
- Ensembl rs2055201328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available