A8V (p.Ala8Val) variant of SQSTM1 (Sequestosome-1)
A8V (p.Ala8Val) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- Ensembl rs1757750793
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.29
- CADD 28.00
- PolyPhen-2 0.72
- SIFT 0.06
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.068