F26L (p.Phe26Leu) variant of G6PD (P11413)
F26L (p.Phe26Leu) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- NCI-TCGA Cosmic COSV5483
- cosmic curated COSV54839
- TOPMed rs1487624588
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.53
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available