L12R (p.Leu12Arg) variant of CALCB (P10092)
L12R (p.Leu12Arg) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 11-15074753-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.28
- CADD 29.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available