N11Y (p.Asn11Tyr) variant of NSD1 (Q96L73)
N11Y (p.Asn11Tyr) in NSD1 (Q96L73) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N11Y (p.Asn11Tyr) variant details
- p.Asn11Tyr
- gnomAD 5-177135134-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available