P18T (p.Pro18Thr) variant of FUS (RNA-binding protein FUS)
P18T (p.Pro18Thr) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- rs144888138
- ClinGen CA8023438
- cosmic curated COSV99568
- ClinVar RCV001440763
- Likely benign
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Likely benign (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)