R10Q (p.Arg10Gln) variant of NSD1 (Q96L73)
R10Q (p.Arg10Gln) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs142168402
- gnomAD 5-177136907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- CADD 2.63
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available