K127E (p.Lys127Glu) variant of ABCC6 (O95255)
K127E (p.Lys127Glu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K127E (p.Lys127Glu) variant details
- p.Lys127Glu
- 1000Genomes rs2049008560
- gnomAD rs2049008560
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available