P69H (p.Pro69His) variant of SLC2A4 (P14672)
P69H (p.Pro69His) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P69H (p.Pro69His) variant details
- p.Pro69His
- TOPMed rs2072420582
- gnomAD rs2072420582
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available