L53Q (p.Leu53Gln) variant of CALCB (P10092)
L53Q (p.Leu53Gln) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L53Q (p.Leu53Gln) variant details
- p.Leu53Gln
- gnomAD 11-15075132-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.37
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available