K60R (p.Lys60Arg) variant of SETD2 (Q9BYW2)
K60R (p.Lys60Arg) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- gnomAD rs1340972697
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)