M17T (p.Met17Thr) variant of CALCRL (Q16602)
M17T (p.Met17Thr) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M17T (p.Met17Thr) variant details
- p.Met17Thr
- TOPMed rs1433379180
- gnomAD rs1433379180
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.10
- CADD 8.59
- PolyPhen-2 0.01
- SIFT 0.89
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available