D29G (p.Asp29Gly) variant of NSD1 (Q96L73)
D29G (p.Asp29Gly) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- gnomAD 5-177135189-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.40
- CADD 31.00
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available