R18C (p.Arg18Cys) variant of SQSTM1 (Sequestosome-1)
R18C (p.Arg18Cys) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- gnomAD rs1426997451
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.25
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.0607