S133P (p.Ser133Pro) variant of ABCC6 (O95255)
S133P (p.Ser133Pro) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S133P (p.Ser133Pro) variant details
- p.Ser133Pro
- TOPMed rs989524613
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.42
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available