P31L (p.Pro31Leu) variant of SQSTM1 (Sequestosome-1)
P31L (p.Pro31Leu) in SQSTM1 (Sequestosome-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD rs1441503947
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.08
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.3e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.355