Y18C (p.Tyr18Cys) variant of CALCB (P10092)
Y18C (p.Tyr18Cys) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- ExAC rs756345561
- gnomAD rs756345561
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available