K16R (p.Lys16Arg) variant of RAD21 (O60216)
K16R (p.Lys16Arg) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- TOPMed rs1252270592
- gnomAD rs1252270592
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.30
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)