D47G (p.Asp47Gly) variant of TSC1 (Hamartin)
D47G (p.Asp47Gly) in TSC1 (Hamartin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- NCI-TCGA Cosmic COSV5376
- cosmic curated COSV53767
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available