A38T (p.Ala38Thr) variant of SPTBN4 (Q9H254)
A38T (p.Ala38Thr) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Neurodevelopmental disorder with hypotonia, neuropathy, and deafness; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs73931308
- ClinGen CA9445248
- cosmic curated COSV58946
- ClinVar RCV001710110
- Benign
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 13.20
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Benign (Neurodevelopmental disorder with hypotonia, neuropathy, and deaf)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SINDHI population (allele frequency 0.48)
- Structural context available
- Cited in: SPTBN4 Disorder. (PMID 32672909)