P31S (p.Pro31Ser) variant of SQSTM1 (Sequestosome-1)
P31S (p.Pro31Ser) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- ExAC rs753766210
- gnomAD rs753766210
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.02
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.355