K13N (p.Lys13Asn) variant of SQSTM1 (Sequestosome-1)
K13N (p.Lys13Asn) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K13N (p.Lys13Asn) variant details
- p.Lys13Asn
- gnomAD 5-179820975-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.36
- SIFT 0.02
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.63
- Literature evidence available