P29A (p.Pro29Ala) variant of SQSTM1 (Sequestosome-1)
P29A (p.Pro29Ala) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, experimental measurements, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- ExAC rs752506754
- TOPMed rs752506754
- gnomAD rs752506754
- Uncertain significance
- Missense
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.904