N11H (p.Asn11His) variant of NSD1 (Q96L73)
N11H (p.Asn11His) 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 and structural context.
N11H (p.Asn11His) variant details
- p.Asn11His
- TOPMed rs1449658273
- gnomAD rs1449658273
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available