K59E (p.Lys59Glu) variant of SPTA1 (P02549)
K59E (p.Lys59Glu) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- TOPMed rs1218579692
- gnomAD rs1218579692
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 23.00
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)