C27F (p.Cys27Phe) variant of SQSTM1 (Sequestosome-1)
C27F (p.Cys27Phe) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- Ensembl rs2113479666
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.02
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.406