G12D (p.Gly12Asp) variant of SQSTM1 (Sequestosome-1)
G12D (p.Gly12Asp) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- Ensembl rs866832054
- cosmic curated COSV10889
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.849