P27Q (p.Pro27Gln) variant of CALCB (P10092)
P27Q (p.Pro27Gln) in CALCB (P10092) 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, published literature, and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 11-15074798-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.35
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available