L292S (p.Leu292Ser) variant of SETD5 (Q9C0A6)
L292S (p.Leu292Ser) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L292S (p.Leu292Ser) variant details
- p.Leu292Ser
- rs2125187544
- ClinGen CA351688476
- ClinVar RCV002071032
- Ensembl rs2125187544
- Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available