I52M (p.Ile52Met) variant of CALCRL (Q16602)
I52M (p.Ile52Met) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I52M (p.Ile52Met) variant details
- p.Ile52Met
- ExAC rs765924388
- gnomAD rs765924388
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.19
- CADD 12.40
- PolyPhen-2 0.04
- SIFT 0.91
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available