L107I (p.Leu107Ile) variant of SPTA1 (P02549)
L107I (p.Leu107Ile) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
L107I (p.Leu107Ile) variant details
- p.Leu107Ile
- 1000Genomes rs572059809
- ExAC rs572059809
- gnomAD rs572059809
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 5.89
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)