S77L (p.Ser77Leu) variant of FUS (RNA-binding protein FUS)
S77L (p.Ser77Leu) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
S77L (p.Ser77Leu) variant details
- p.Ser77Leu
- ExAC rs779170261
- gnomAD rs779170261
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.16
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available