P3P (p.Pro3Pro) variant of HFE (Q30201)
P3P (p.Pro3Pro) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P3P (p.Pro3Pro) variant details
- p.Pro3Pro
- rs1390702180
- gnomAD 6-26087449-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.64
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available