L32P (p.Leu32Pro) variant of CALCB (P10092)
L32P (p.Leu32Pro) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- gnomAD 11-15075069-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available