Y1997C (p.Tyr1997Cys) variant of NSD1 (Q96L73)
Y1997C (p.Tyr1997Cys) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sotos syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
Y1997C (p.Tyr1997Cys) variant details
- p.Tyr1997Cys
- rs797045825
- ClinGen CA319717
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Pathogenic/Likely pathogenic
- Sotos syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.81
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 0.85
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Sotos syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in SOTOS)
- UniProt: Pathogenic (in SOTOS)
- Structural context available
- Cited in: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PMID 12807965)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)