E26K (p.Glu26Lys) variant of NSD1 (Q96L73)
E26K (p.Glu26Lys) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD rs978430605
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.38
- CADD 28.60
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available