S34R (p.Ser34Arg) variant of CALCB (P10092)
S34R (p.Ser34Arg) in CALCB (P10092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- rs776091672
- ClinGen CA379871724
- ClinVar RCV004434490
- ExAC rs776091672
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- CADD 23.80
- PolyPhen-2 0.55
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available