P31R (p.Pro31Arg) variant of SQSTM1 (Sequestosome-1)
P31R (p.Pro31Arg) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- gnomAD 5-179821028-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.18
- SIFT 0.06
- 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 -0.355
- Literature evidence available