S28G (p.Ser28Gly) variant of ABCC6 (O95255)
S28G (p.Ser28Gly) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- Ensembl rs2141227184
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.08
- CADD 18.20
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available