E2K (p.Glu2Lys) variant of CALCRL (Q16602)
E2K (p.Glu2Lys) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- cosmic curated COSV66474
- TOPMed rs879841583
- gnomAD rs879841583
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available