M1K (p.Met1Lys) variant of SETD2 (Q9BYW2)
M1K (p.Met1Lys) 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 0.47 / 1. The record also includes experimental measurements, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1221828308
- ClinGen CA352512819
- ClinVar RCV000795794
- Likely benign
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- MetaLR 0.51
- MetaSVM -0.34
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.97
- ClinVar: Likely benign (Luscan-Lumish syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.521
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)