T56I (p.Thr56Ile) variant of NSD1 (Q96L73)
T56I (p.Thr56Ile) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- ExAC rs773358220
- gnomAD rs773358220
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available