N11D (p.Asn11Asp) variant of NSD1 (Q96L73)
N11D (p.Asn11Asp) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N11D (p.Asn11Asp) variant details
- p.Asn11Asp
- gnomAD 5-177135134-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- CADD 25.40
- PolyPhen-2 0.63
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available