S57T (p.Ser57Thr) variant of NSD1 (Q96L73)
S57T (p.Ser57Thr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- TOPMed rs1298442193
- gnomAD rs1298442193
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.31
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available