G13A (p.Gly13Ala) variant of CBL (E3 ubiquitin-protein ligase CBL)
G13A (p.Gly13Ala) in CBL (E3 ubiquitin-protein ligase CBL) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- rs2135243966
- gnomAD 11-119206450-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 25.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available
- CBL Ubiquitin-associated domain domainome 1.0: score -0.447
- Literature evidence available