A116E (p.Ala116Glu) variant of CALCRL (Q16602)
A116E (p.Ala116Glu) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A116E (p.Ala116Glu) variant details
- p.Ala116Glu
- gnomAD rs1201822877
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.19
- CADD 2.96
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available