E29K (p.Glu29Lys) variant of CALCRL (Q16602)
E29K (p.Glu29Lys) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- cosmic curated COSV66476
- TOPMed rs1289640533
- gnomAD rs1289640533
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- CADD 6.41
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available