P27T (p.Pro27Thr) variant of CALCB (P10092)
P27T (p.Pro27Thr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- gnomAD 11-15074797-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.40
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available