S22I (p.Ser22Ile) variant of CALCB (P10092)
S22I (p.Ser22Ile) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- gnomAD 11-15074783-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.17
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available