L107F (p.Leu107Phe) variant of SPTA1 (P02549)
L107F (p.Leu107Phe) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- rs572059809
- ClinGen CA1184200
- ClinVar RCV004309494
- 1000Genomes rs572059809
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 13.10
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)