P23L (p.Pro23Leu) variant of SETD2 (Q9BYW2)
P23L (p.Pro23Leu) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- TOPMed rs892374525
- gnomAD rs892374525
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.24
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.316