P25S (p.Pro25Ser) variant of NSD1 (Q96L73)
P25S (p.Pro25Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- ExAC rs766881071
- TOPMed rs766881071
- gnomAD rs766881071
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.25
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available