N32S (p.Asn32Ser) variant of TSC1 (Hamartin)
N32S (p.Asn32Ser) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tuberous sclerosis syndrome; Tuberous sclerosis 1; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- rs1222555421
- ClinGen CA375375276
- ClinVar RCV001340263
- ClinVar RCV003169612
- Uncertain significance
- Tuberous sclerosis syndrome; Tuberous sclerosis 1; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Tuberous sclerosis syndrome; Tuberous sclerosis 1; Hereditary ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)