A57T (p.Ala57Thr) variant of TSC1 (Hamartin)
A57T (p.Ala57Thr) in TSC1 (Hamartin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- cosmic curated COSV53771
- Ensembl rs1846921261
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.31
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available