P8L (p.Pro8Leu) variant of CALCB (P10092)
P8L (p.Pro8Leu) in CALCB (P10092) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- 1000Genomes rs529327624
- ExAC rs529327624
- TOPMed rs529327624
- gnomAD rs529327624
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available