G53S (p.Gly53Ser) variant of NOTCH3 (Q9UM47)
G53S (p.Gly53Ser) 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 0.81 / 1. The record also includes population frequency data and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs778989879
- ClinGen CA9263983
- ClinVar RCV001769084
- ExAC rs778989879
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.83
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available