S51T (p.Ser51Thr) variant of NSD1 (Q96L73)
S51T (p.Ser51Thr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S51T (p.Ser51Thr) variant details
- p.Ser51Thr
- gnomAD 5-177135254-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available