P8P (p.Pro8Pro) variant of NSD1 (Q96L73)
P8P (p.Pro8Pro) in NSD1 (Q96L73) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P8P (p.Pro8Pro) variant details
- p.Pro8Pro
- gnomAD 5-177135127-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 11.40
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available