A35V (p.Ala35Val) variant of SQSTM1 (Sequestosome-1)
A35V (p.Ala35Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SQSTM1-related disorder. 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.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs2480199053
- ClinGen CA362442370
- ClinVar RCV004527939
- Uncertain significance
- SQSTM1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.53
- SIFT 0.70
- ClinVar: Uncertain significance (SQSTM1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.02