G35S (p.Gly35Ser) variant of NSD1 (Q96L73)
G35S (p.Gly35Ser) in NSD1 (Q96L73) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- rs777455412
- NCI-TCGA Cosmic COSV6177
- ExAC rs777455412
- gnomAD rs777455412
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.45
- CADD 26.30
- PolyPhen-2 0.47
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available