A347T (p.Ala347Thr) variant of SETD5 (Q9C0A6)
A347T (p.Ala347Thr) 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 record also includes structural context.
A347T (p.Ala347Thr) variant details
- p.Ala347Thr
- rs2472725187
- ClinVar RCV004595238
- cosmic curated COSV10739
- Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- ClinVar: Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available