S15N (p.Ser15Asn) variant of CBL (E3 ubiquitin-protein ligase CBL)
S15N (p.Ser15Asn) in CBL (E3 ubiquitin-protein ligase CBL) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- gnomAD 11-119206461-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.27
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -1.09
- Literature evidence available