Q77H (p.Gln77His) variant of NOTCH3 (Q9UM47)
Q77H (p.Gln77His) in NOTCH3 (Q9UM47) 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 0.50 / 1. The record also includes population frequency data and structural context.
Q77H (p.Gln77His) variant details
- p.Gln77His
- rs1438944422
- gnomAD rs1438944422
- ClinGen CA404535126
- ClinVar RCV001663843
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.67
- CADD 18.80
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available