K72R (p.Lys72Arg) variant of RAD21 (O60216)
K72R (p.Lys72Arg) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- Ensembl rs1812625472
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.25
- CADD 27.70
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)