D47N (p.Asp47Asn) variant of TSC1 (Hamartin)
D47N (p.Asp47Asn) in TSC1 (Hamartin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- cosmic curated COSV53774
- Ensembl rs2132269163
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.87
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available