R246P (p.Arg246Pro) variant of SPTBN4 (Q9H254)
R246P (p.Arg246Pro) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature.
R246P (p.Arg246Pro) variant details
- p.Arg246Pro
- rs370960966
- ClinGen CA405901594
- NCI-TCGA Cosmic COSV5894
- cosmic curated COSV58945
- Likely pathogenic
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -0.89
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 0.51
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with hypotonia, neuropathy, and deaf)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: SPTBN4 Disorder. (PMID 32672909)