A20P (p.Ala20Pro) variant of CALCB (P10092)
A20P (p.Ala20Pro) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- gnomAD 11-15074776-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.27
- CADD 27.30
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available