M48V (p.Met48Val) variant of NSD1 (Q96L73)
M48V (p.Met48Val) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sotos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- rs200735877
- ClinGen CA294796
- ClinVar RCV003231169
- ClinVar RCV004751291
- Conflicting interpretations
- Sotos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.31
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Sotos syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)