S15I (p.Ser15Ile) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15I (p.Ser15Ile) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15I (p.Ser15Ile) variant details
- p.Ser15Ile
- gnomAD 11-119206461-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.09
- Literature evidence available