R10K (p.Arg10Lys) variant of NSD1 (Q96L73)
R10K (p.Arg10Lys) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, 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 0.55 / 1. The record also includes population frequency data and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- rs1581089074
- ClinGen CA362290038
- ClinVar RCV005208726
- Ensembl rs1581089074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.47
- CADD 24.70
- PolyPhen-2 0.76
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available