M48L (p.Met48Leu) variant of NSD1 (Q96L73)
M48L (p.Met48Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M48L (p.Met48Leu) variant details
- p.Met48Leu
- gnomAD 5-177135245-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.37
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available