K2R (p.Lys2Arg) variant of SETD2 (Q9BYW2)
K2R (p.Lys2Arg) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- UniProt VAR 079054
- Uncertain significance
- in ALL
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.30
- CADD 24.20
- PolyPhen-2 0.64
- SIFT 0.03
- EBI: Variant of uncertain significance (in ALL)
- UniProt: Uncertain significance (in ALL)
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.539
- Cited in: Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic… (PMID 24662245)
- Cited in: Identification of functional cooperative mutations of SETD2 in human acute leukemia. (PMID 24509477)