R1708P (p.Arg1708Pro) variant of SETD2 (Q9BYW2)
R1708P (p.Arg1708Pro) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature.
R1708P (p.Arg1708Pro) variant details
- p.Arg1708Pro
- rs2107674146
- ClinGen CA352511856
- ClinVar RCV003990322
- Ensembl rs2107674146
- Likely pathogenic
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.79
- MetaLR 0.71
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.83
- ClinVar: Likely pathogenic (Luscan-Lumish syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)