V58A (p.Val58Ala) variant of CALCB (P10092)
V58A (p.Val58Ala) 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, published literature, and structural context.
V58A (p.Val58Ala) variant details
- p.Val58Ala
- gnomAD 11-15075147-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.12
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available