A35T (p.Ala35Thr) variant of SQSTM1 (Sequestosome-1)
A35T (p.Ala35Thr) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD rs1166539773
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.06
- CADD 23.50
- PolyPhen-2 0.68
- SIFT 0.61
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.02