A52V (p.Ala52Val) variant of CALCB (P10092)
A52V (p.Ala52Val) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD 11-15075129-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.19
- CADD 25.50
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available