M48I (p.Met48Ile) variant of NSD1 (Q96L73)
M48I (p.Met48Ile) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- gnomAD 5-177135247-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available