L18W (p.Leu18Trp) variant of SPTA1 (P02549)
L18W (p.Leu18Trp) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
L18W (p.Leu18Trp) variant details
- p.Leu18Trp
- ExAC rs777146280
- TOPMed rs777146280
- gnomAD rs777146280
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)