A20S (p.Ala20Ser) variant of CALR (Calreticulin)
A20S (p.Ala20Ser) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 19-12938737-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.08
- CADD 1.62
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available