H181P (p.His181Pro) variant of TSC1 (Hamartin)
H181P (p.His181Pro) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
H181P (p.His181Pro) variant details
- p.His181Pro
- rs397515294
- ClinGen CA007715
- ClinVar RCV000055010
- ClinVar RCV002273951
- Likely pathogenic
- Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.66
- MetaLR 0.64
- MetaSVM 0.35
- PolyPhen-2 0.39
- SIFT 0.13
- EVE 0.78
- ClinVar: Likely pathogenic (Tuberous sclerosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)