D128N (p.Asp128Asn) variant of RAD21 (O60216)
D128N (p.Asp128Asn) 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.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- gnomAD rs1280702667
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.29
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)