G36E (p.Gly36Glu) variant of RAD50 (DNA repair protein RAD50)
G36E (p.Gly36Glu) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- ExAC rs774754593
- gnomAD rs774754593
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available