K13K (p.Lys13Lys) variant of SQSTM1 (Sequestosome-1)
K13K (p.Lys13Lys) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K13K (p.Lys13Lys) variant details
- p.Lys13Lys
- rs1007964808
- gnomAD 5-179820975-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 14.10
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.63
- Literature evidence available