E82K (p.Glu82Lys) variant of SPTA1 (P02549)
E82K (p.Glu82Lys) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- gnomAD rs1354772766
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)