D30E (p.Asp30Glu) variant of CALCRL (Q16602)
D30E (p.Asp30Glu) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- ExAC rs754406460
- gnomAD rs754406460
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available