P147S (p.Pro147Ser) variant of ABCC6 (O95255)
P147S (p.Pro147Ser) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P147S (p.Pro147Ser) variant details
- p.Pro147Ser
- TOPMed rs980998558
- gnomAD rs980998558
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available