R361P (p.Arg361Pro) variant of SETD5 (Q9C0A6)
R361P (p.Arg361Pro) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.55 / 1. The record also includes structural context.
R361P (p.Arg361Pro) variant details
- p.Arg361Pro
- rs2125212022
- ClinGen CA351689858
- ClinVar RCV002250344
- Ensembl rs2125212022
- Pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.75
- MetaLR 0.52
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.49
- ClinVar: Pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available