R10I (p.Arg10Ile) variant of NSD1 (Q96L73)
R10I (p.Arg10Ile) 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 0.65 / 1. The record also includes population frequency data and structural context.
R10I (p.Arg10Ile) variant details
- p.Arg10Ile
- NCI-TCGA Cosmic COSV6177
- Ensembl rs1581089074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.62
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available