N38K (p.Asn38Lys) variant of NSD1 (Q96L73)
N38K (p.Asn38Lys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- TOPMed rs1169250439
- gnomAD rs1169250439
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available