V5L (p.Val5Leu) variant of CALR (Calreticulin)
V5L (p.Val5Leu) in CALR (Calreticulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 19-12938692-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available