R29T (p.Arg29Thr) variant of CALCB (P10092)
R29T (p.Arg29Thr) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R29T (p.Arg29Thr) variant details
- p.Arg29Thr
- gnomAD 11-15074804-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.45
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available