C1674Y (p.Cys1674Tyr) variant of NSD1 (Q96L73)
C1674Y (p.Cys1674Tyr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C1674Y (p.Cys1674Tyr) variant details
- p.Cys1674Tyr
- rs587784135
- ClinGen CA294930
- ClinVar RCV003231256
- Ensembl rs587784135
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic (in SOTOS)
- UniProt: Likely pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)