V20M (p.Val20Met) variant of NSD1 (Q96L73)
V20M (p.Val20Met) in NSD1 (Q96L73) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- NCI-TCGA TCGA novel
- ESP rs377302741
- TOPMed rs377302741
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.40
- CADD 23.70
- PolyPhen-2 0.13
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available