Q197E (p.Gln197Glu) variant of RAD21 (O60216)
Q197E (p.Gln197Glu) in RAD21 (O60216) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
Q197E (p.Gln197Glu) variant details
- p.Gln197Glu
- gnomAD rs1352385210
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.07
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)