F62C (p.Phe62Cys) variant of REEP1 (Q9H902)
F62C (p.Phe62Cys) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F62C (p.Phe62Cys) variant details
- p.Phe62Cys
- gnomAD rs1676464000
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 29.90
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available