L12V (p.Leu12Val) variant of CALCB (P10092)
L12V (p.Leu12Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 11-15074752-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.04
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available