K50del (p.Lys50del) variant of SLC2A4 (P14672)
K50del (p.Lys50del) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K50del (p.Lys50del) variant details
- gnomAD 17-7283356-CAGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 21.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available