D126N (p.Asp126Asn) variant of RAD21 (O60216)
D126N (p.Asp126Asn) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
D126N (p.Asp126Asn) variant details
- p.Asp126Asn
- ExAC rs764298349
- TOPMed rs764298349
- gnomAD rs764298349
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.28
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)