G138S (p.Gly138Ser) variant of ABCC6 (O95255)
G138S (p.Gly138Ser) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G138S (p.Gly138Ser) variant details
- p.Gly138Ser
- TOPMed rs1307984851
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.40
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available