K72M (p.Lys72Met) variant of ABCC6 (O95255)
K72M (p.Lys72Met) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K72M (p.Lys72Met) variant details
- p.Lys72Met
- gnomAD rs1167869456
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.50
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available