I228L (p.Ile228Leu) variant of RAD21 (O60216)
I228L (p.Ile228Leu) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
I228L (p.Ile228Leu) variant details
- p.Ile228Leu
- gnomAD rs1252368238
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.12
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)