K2N (p.Lys2Asn) variant of SETD2 (Q9BYW2)
K2N (p.Lys2Asn) in SETD2 (Q9BYW2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ALL. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- Ensembl rs2106868731
- Uncertain significance
- in ALL
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.30
- AlphaMissense 0.08
- MetaLR 0.34
- MetaSVM -0.71
- CADD 23.20
- PolyPhen-2 0.05
- EBI: uncertain significance (in ALL)
- UniProt: Uncertain significance (in ALL)
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.539