I20V (p.Ile20Val) variant of SQSTM1 (Sequestosome-1)
I20V (p.Ile20Val) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- gnomAD 5-179820994-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.09
- CADD 24.50
- PolyPhen-2 0.47
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.945
- Literature evidence available