S43N (p.Ser43Asn) variant of RAD21 (O60216)
S43N (p.Ser43Asn) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- ExAC rs762402509
- gnomAD rs762402509
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.12
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)