Y57C (p.Tyr57Cys) variant of CALCB (P10092)
Y57C (p.Tyr57Cys) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Y57C (p.Tyr57Cys) variant details
- p.Tyr57Cys
- ExAC rs772540926
- gnomAD rs772540926
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available