A31V (p.Ala31Val) variant of CALCB (P10092)
A31V (p.Ala31Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- TOPMed rs1361777863
- gnomAD rs1361777863
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available