T71A (p.Thr71Ala) variant of FUS (RNA-binding protein FUS)
T71A (p.Thr71Ala) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T71A (p.Thr71Ala) variant details
- p.Thr71Ala
- rs762488475
- ClinGen CA8023536
- ClinVar RCV002944224
- ExAC rs762488475
- Uncertain significance
- Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.15
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Tremor, hereditary essential, 4; Amyotrophic lateral sclerosis t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)