P147T (p.Pro147Thr) variant of ABCC6 (O95255)
P147T (p.Pro147Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P147T (p.Pro147Thr) variant details
- p.Pro147Thr
- TOPMed rs980998558
- gnomAD rs980998558
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 19.10
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available