A20V (p.Ala20Val) variant of CALR (Calreticulin)
A20V (p.Ala20Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 19-12938738-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.09
- CADD 9.46
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available