P937R (p.Pro937Arg) variant of TBCD (Tubulin-specific chaperone D)
P937R (p.Pro937Arg) in TBCD (Tubulin-specific chaperone D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
P937R (p.Pro937Arg) variant details
- p.Pro937Arg
- rs886041087
- ClinGen CA10602689
- ClinVar RCV000258900
- UniProt VAR 077977
- Pathogenic
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.16
- MetaLR 0.26
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Early-onset progressive diffuse brain atrophy-microcephaly-muscl)
- EBI: Pathogenic (in PEBAT)
- UniProt: Pathogenic (in PEBAT)
- Structural context available
- Cited in: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID 27666374)
- Cited in: Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of… (PMID 27807845)