R2435C (p.Arg2435Cys) variant of SPTBN4 (Q9H254)
R2435C (p.Arg2435Cys) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
R2435C (p.Arg2435Cys) variant details
- p.Arg2435Cys
- rs777273785
- ClinGen CA9446927
- ClinVar RCV000677272
- ExAC rs777273785
- Pathogenic
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.78
- MetaLR 0.07
- MetaSVM -1.08
- CADD 26.20
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hypotonia, neuropathy, and deaf)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Cited in: βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. (PMID 29861105)
- Cited in: SPTBN4 Disorder. (PMID 32672909)