W10G (p.Trp10Gly) variant of NOTCH2 (Q04721)
W10G (p.Trp10Gly) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
W10G (p.Trp10Gly) variant details
- p.Trp10Gly
- gnomAD rs1553217930
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available