P19T (p.Pro19Thr) variant of NSD1 (Q96L73)
P19T (p.Pro19Thr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- ExAC rs766740770
- gnomAD rs766740770
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available