A25T (p.Ala25Thr) variant of CALCB (P10092)
A25T (p.Ala25Thr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- gnomAD 11-15074791-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available