Q63R (p.Gln63Arg) variant of NSD1 (Q96L73)
Q63R (p.Gln63Arg) 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.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- Ensembl rs1756219351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available