D108E (p.Asp108Glu) variant of CALCRL (Q16602)
D108E (p.Asp108Glu) in CALCRL (Q16602) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D108E (p.Asp108Glu) variant details
- p.Asp108Glu
- TOPMed rs1687942026
- gnomAD rs1687942026
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available