S42N (p.Ser42Asn) variant of CALCB (P10092)
S42N (p.Ser42Asn) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- ExAC rs776832564
- gnomAD rs776832564
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.12
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available