M224R (p.Met224Arg) variant of TSC1 (Hamartin)
M224R (p.Met224Arg) 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 syndrome; Tuberous sclerosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
M224R (p.Met224Arg) variant details
- p.Met224Arg
- rs118203426
- ClinGen CA008014
- ClinVar RCV000005411
- ClinVar RCV000042336
- Likely pathogenic
- Tuberous sclerosis syndrome; Tuberous sclerosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.92
- MetaLR 0.68
- MetaSVM 0.47
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Tuberous sclerosis syndrome; Tuberous sclerosis 1)
- EBI: Pathogenic (in TSC1)
- UniProt: Pathogenic (in TSC1)
- Structural context available
- Cited in: Missense mutations to the TSC1 gene cause tuberous sclerosis complex. (PMID 18830229)
- Cited in: Tuberous Sclerosis Complex. (PMID 20301399)