K67E (p.Lys67Glu) variant of SPTA1 (P02549)
K67E (p.Lys67Glu) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
K67E (p.Lys67Glu) variant details
- p.Lys67Glu
- rs1273701490
- ClinGen CA343025606
- ClinVar RCV003138676
- gnomAD rs1273701490
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 23.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)