L10F (p.Leu10Phe) variant of SQSTM1 (Sequestosome-1)
L10F (p.Leu10Phe) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- ExAC rs771845079
- TOPMed rs771845079
- gnomAD rs771845079
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.41
- CADD 28.70
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.267