A72V (p.Ala72Val) variant of CALR (Calreticulin)
A72V (p.Ala72Val) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- gnomAD rs1278938364
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.55
- CADD 25.30
- PolyPhen-2 0.43
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available