G21D (p.Gly21Asp) variant of NOTCH1 (P46531)
G21D (p.Gly21Asp) in NOTCH1 (P46531) 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 0.61 / 1. The record also includes population frequency data and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs1554733407
- ClinGen CA375579362
- ClinVar RCV000523036
- Ensembl rs1554733407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 27.10
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available