T187A (p.Thr187Ala) variant of RAD21 (O60216)
T187A (p.Thr187Ala) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
T187A (p.Thr187Ala) variant details
- p.Thr187Ala
- ExAC rs769141885
- TOPMed rs769141885
- gnomAD rs769141885
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.05
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.00018)