K34N (p.Lys34Asn) variant of TSC2 (Tuberin)
K34N (p.Lys34Asn) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- rs2150972734
- ClinGen CA394301506
- ClinVar RCV003152258
- Ensembl rs2150972734
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- REVEL 0.07
- CADD 8.08
- PolyPhen-2 0.30
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available