K72E (p.Lys72Glu) variant of SPTA1 (P02549)
K72E (p.Lys72Glu) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- ExAC rs770613744
- TOPMed rs770613744
- gnomAD rs770613744
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)