K13R (p.Lys13Arg) variant of SQSTM1 (Sequestosome-1)
K13R (p.Lys13Arg) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- gnomAD 5-179820974-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.18
- CADD 25.70
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.63
- Literature evidence available