P6T (p.Pro6Thr) variant of BCOR (BCL-6 corepressor)
P6T (p.Pro6Thr) in BCOR (BCL-6 corepressor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- ExAC rs763933195
- gnomAD rs763933195
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.42
- CADD 24.60
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available