I14V (p.Ile14Val) variant of CALCB (P10092)
I14V (p.Ile14Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- gnomAD 11-15074758-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.09
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available