G54A (p.Gly54Ala) variant of CALR (Calreticulin)
G54A (p.Gly54Ala) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- gnomAD 19-12939203-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available