S51P (p.Ser51Pro) variant of NSD1 (Q96L73)
S51P (p.Ser51Pro) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- rs778646937
- ClinGen CA3576846
- ClinVar RCV005058954
- ExAC rs778646937
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.31
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available