K50N (p.Lys50Asn) variant of SLC2A4 (P14672)
K50N (p.Lys50Asn) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- 1000Genomes rs2143004783
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.29
- CADD 33.00
- SIFT 0.10
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available