P18S (p.Pro18Ser) variant of FUS (RNA-binding protein FUS)
P18S (p.Pro18Ser) 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 Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs144888138
- ClinGen CA8023439
- ClinVar RCV001120232
- ClinVar RCV001247861
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)