I206S (p.Ile206Ser) variant of RAD21 (O60216)
I206S (p.Ile206Ser) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
I206S (p.Ile206Ser) variant details
- p.Ile206Ser
- TOPMed rs1342945567
- gnomAD rs1342945567
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)