P56R (p.Pro56Arg) variant of SETD2 (Q9BYW2)
P56R (p.Pro56Arg) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- Ensembl rs2043245677
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.58
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)