R29R (p.Arg29Arg) variant of TSC2 (Tuberin)
R29R (p.Arg29Arg) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R29R (p.Arg29Arg) variant details
- p.Arg29Arg
- rs752830086
- gnomAD 16-2048700-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.19
- MetaLR 0.22
- MetaSVM -0.71
- CADD 14.40
- PolyPhen-2 0.16
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available