K12K (p.Lys12Lys) variant of TSC2 (Tuberin)
K12K (p.Lys12Lys) in TSC2 (Tuberin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K12K (p.Lys12Lys) variant details
- p.Lys12Lys
- rs1596233951
- gnomAD 16-2048651-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.89
- MetaLR 0.78
- MetaSVM 0.65
- CADD 13.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available