E61Q (p.Glu61Gln) variant of CALCRL (Q16602)
E61Q (p.Glu61Gln) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E61Q (p.Glu61Gln) variant details
- p.Glu61Gln
- TOPMed rs1254290668
- gnomAD rs1254290668
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.09
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available