V6A (p.Val6Ala) variant of SQSTM1 (Sequestosome-1)
V6A (p.Val6Ala) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD 5-179820953-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.35
- CADD 27.80
- PolyPhen-2 0.63
- SIFT 0.05
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.188
- Literature evidence available