G41E (p.Gly41Glu) variant of RAD50 (DNA repair protein RAD50)
G41E (p.Gly41Glu) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G41E (p.Gly41Glu) variant details
- p.Gly41Glu
- gnomAD rs1473775948
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available