L10V (p.Leu10Val) variant of SQSTM1 (Sequestosome-1)
L10V (p.Leu10Val) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- ExAC rs771845079
- TOPMed rs771845079
- gnomAD rs771845079
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.24
- CADD 26.40
- PolyPhen-2 0.81
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00014)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.267