Y61C (p.Tyr61Cys) variant of NSD1 (Q96L73)
Y61C (p.Tyr61Cys) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y61C (p.Tyr61Cys) variant details
- p.Tyr61Cys
- gnomAD 5-177135285-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.59
- CADD 26.30
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available