S7Y (p.Ser7Tyr) variant of CALCB (P10092)
S7Y (p.Ser7Tyr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- gnomAD 11-15074738-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available