S54N (p.Ser54Asn) variant of NSD1 (Q96L73)
S54N (p.Ser54Asn) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- ExAC rs748405383
- gnomAD rs748405383
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.59
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available