T4S (p.Thr4Ser) variant of NSD1 (Q96L73)
T4S (p.Thr4Ser) 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.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- gnomAD rs1756202193
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.29
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available