S2181F (p.Ser2181Phe) variant of NSD1 (Q96L73)
S2181F (p.Ser2181Phe) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Holoprosencephaly 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
S2181F (p.Ser2181Phe) variant details
- p.Ser2181Phe
- rs2127279367
- ClinGen CA362323846
- cosmic curated COSV61774
- ClinVar RCV001730119
- Likely pathogenic
- Holoprosencephaly 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Holoprosencephaly 2; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Holoprosencephaly Overview. (PMID 20301702)