L43F (p.Leu43Phe) variant of NSD1 (Q96L73)
L43F (p.Leu43Phe) 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, published literature, and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- gnomAD 5-177135230-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- CADD 18.50
- PolyPhen-2 0.17
- SIFT 0.15
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available