G30A (p.Gly30Ala) variant of CALR (Calreticulin)
G30A (p.Gly30Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD rs1236351578
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.12
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.21
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available