P27L (p.Pro27Leu) variant of CALCB (P10092)
P27L (p.Pro27Leu) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD rs1396405869
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.44
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available