A60A (p.Ala60Ala) variant of NSD1 (Q96L73)
A60A (p.Ala60Ala) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A60A (p.Ala60Ala) variant details
- p.Ala60Ala
- rs772907473
- gnomAD 5-177135283-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available