A60G (p.Ala60Gly) variant of NSD1 (Q96L73)
A60G (p.Ala60Gly) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A60G (p.Ala60Gly) variant details
- p.Ala60Gly
- gnomAD 5-177135282-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.31
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available