M48K (p.Met48Lys) variant of NSD1 (Q96L73)
M48K (p.Met48Lys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M48K (p.Met48Lys) variant details
- p.Met48Lys
- gnomAD 5-177135246-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available