V6M (p.Val6Met) variant of SQSTM1 (Sequestosome-1)
V6M (p.Val6Met) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- gnomAD 5-179820952-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.188
- Literature evidence available