P25H (p.Pro25His) variant of NSD1 (Q96L73)
P25H (p.Pro25His) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P25H (p.Pro25His) variant details
- p.Pro25His
- ExAC rs767337519
- gnomAD rs767337519
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available