C12R (p.Cys12Arg) variant of NSD1 (Q96L73)
C12R (p.Cys12Arg) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- rs143406017
- ClinGen CA3576834
- ClinVar RCV000419168
- ClinVar RCV003231475
- Conflicting interpretations
- not provided; not specified; Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.71
- CADD 24.40
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Sotos syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)