R24C (p.Arg24Cys) variant of SPTBN4 (Q9H254)
R24C (p.Arg24Cys) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- ExAC rs759994635
- TOPMed rs759994635
- gnomAD rs759994635
- Uncertain significance
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.60
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (Neurodevelopmental disorder with hypotonia, neuropathy, and deaf)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available