S40S (p.Ser40Ser) variant of CALR (Calreticulin)
S40S (p.Ser40Ser) in CALR (Calreticulin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- gnomAD 19-12939162-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available