T47A (p.Thr47Ala) variant of NSD1 (Q96L73)
T47A (p.Thr47Ala) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- gnomAD 5-177135242-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.36
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available