D56N (p.Asp56Asn) variant of CALCB (P10092)
D56N (p.Asp56Asn) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- gnomAD 11-15075140-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available