F47F (p.Phe47Phe) variant of H6PD (O95479)
F47F (p.Phe47Phe) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F47F (p.Phe47Phe) variant details
- p.Phe47Phe
- rs1640951599
- gnomAD 1-9240013-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.99
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available