G344S (p.Gly344Ser) variant of SETD5 (Q9C0A6)
G344S (p.Gly344Ser) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Intellectual disability-facial dysmorphis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G344S (p.Gly344Ser) variant details
- p.Gly344Ser
- rs2041376679
- ClinGen CA351689492
- ClinVar RCV001252620
- ClinVar RCV004769977
- Conflicting interpretations
- not provided; Inborn genetic diseases; Intellectual disability-facial dysmorphis
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Intellectual disability-f)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available