A40G (p.Ala40Gly) variant of NOTCH3 (Q9UM47)
A40G (p.Ala40Gly) in NOTCH3 (Q9UM47) 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 0.33 / 1. The record also includes population frequency data and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- ExAC rs766139231
- gnomAD rs766139231
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.35
- CADD 16.60
- PolyPhen-2 0.20
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available