F9V (p.Phe9Val) variant of CALCB (P10092)
F9V (p.Phe9Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F9V (p.Phe9Val) variant details
- p.Phe9Val
- gnomAD 11-15074743-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.25
- CADD 25.50
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available