R2536T (p.Arg2536Thr) variant of UNC80 (Protein unc-80 homolog)
R2536T (p.Arg2536Thr) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypotonia, infantile, with psychomotor retardation and characteristic facies 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature.
R2536T (p.Arg2536Thr) variant details
- p.Arg2536Thr
- rs869025317
- ClinGen CA357892
- cosmic curated COSV99780
- ClinVar RCV000207464
- Likely pathogenic
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.28
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.50
- ClinVar: Likely pathogenic (Hypotonia, infantile, with psychomotor retardation and character)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual… (PMID 26708751)
- Cited in: UNC80 Deficiency. (PMID 28933810)