S51L (p.Ser51Leu) variant of NSD1 (Q96L73)
S51L (p.Ser51Leu) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- gnomAD rs1756215957
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available