A2P (p.Ala2Pro) variant of SQSTM1 (Sequestosome-1)
A2P (p.Ala2Pro) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 5-179820940-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.08
- CADD 21.10
- PolyPhen-2 0.36
- SIFT 0.04
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.952
- Literature evidence available