R36S (p.Arg36Ser) variant of CALR (Calreticulin)
R36S (p.Arg36Ser) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- gnomAD 19-12939148-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.45
- CADD 28.20
- PolyPhen-2 0.86
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available