P15S (p.Pro15Ser) variant of NSD1 (Q96L73)
P15S (p.Pro15Ser) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- ESP rs372331010
- ExAC rs372331010
- TOPMed rs372331010
- gnomAD rs372331010
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available