V909D (p.Val909Asp) variant of TSC2 (Tuberin)
V909D (p.Val909Asp) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Tuberous sclerosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V909D (p.Val909Asp) variant details
- p.Val909Asp
- rs2151388871
- ClinGen CA394279555
- ClinVar RCV003513636
- ClinVar RCV005603836
- Likely pathogenic
- not provided; Tuberous sclerosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (not provided; Tuberous sclerosis 2)
- 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)