K11N (p.Lys11Asn) variant of SETD2 (Q9BYW2)
K11N (p.Lys11Asn) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K11N (p.Lys11Asn) variant details
- p.Lys11Asn
- rs1575863434
- ClinGen CA352512595
- ClinVar RCV001497626
- TOPMed rs1575863434
- Likely benign
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.25
- CADD 24.70
- PolyPhen-2 0.79
- SIFT 0.03
- ClinVar: Likely benign (Luscan-Lumish syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.2e-06)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.666
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)