S54T (p.Ser54Thr) variant of NSD1 (Q96L73)
S54T (p.Ser54Thr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- ExAC rs748405383
- gnomAD rs748405383
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.36
- CADD 17.40
- PolyPhen-2 0.05
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available