K128E (p.Lys128Glu) variant of ABCC6 (O95255)
K128E (p.Lys128Glu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K128E (p.Lys128Glu) variant details
- p.Lys128Glu
- Ensembl rs1596775875
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.21
- CADD 24.80
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the East Asian population (allele frequency 5.6e-05)
- Structural context available