N34N (p.Asn34Asn) variant of NSD1 (Q96L73)
N34N (p.Asn34Asn) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N34N (p.Asn34Asn) variant details
- p.Asn34Asn
- rs754317223
- gnomAD 5-177135205-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 12.80
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available