N38S (p.Asn38Ser) variant of NSD1 (Q96L73)
N38S (p.Asn38Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs368524494
- ClinGen CA3576845
- ClinVar RCV005095350
- ESP rs368524494
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.25
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available