T56P (p.Thr56Pro) variant of NSD1 (Q96L73)
T56P (p.Thr56Pro) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T56P (p.Thr56Pro) variant details
- p.Thr56Pro
- ExAC rs769958493
- gnomAD rs769958493
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available