S34I (p.Ser34Ile) variant of CALCB (P10092)
S34I (p.Ser34Ile) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S34I (p.Ser34Ile) variant details
- p.Ser34Ile
- gnomAD 11-15075075-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.07
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available