T109S (p.Thr109Ser) variant of ABCC6 (O95255)
T109S (p.Thr109Ser) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T109S (p.Thr109Ser) variant details
- p.Thr109Ser
- gnomAD rs1183345563
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 19.50
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available