D77H (p.Asp77His) variant of CALCRL (Q16602)
D77H (p.Asp77His) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D77H (p.Asp77His) variant details
- p.Asp77His
- TOPMed rs1273852056
- gnomAD rs1273852056
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available