F51F (p.Phe51Phe) variant of SPINK5 (Q9NQ38)
F51F (p.Phe51Phe) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
F51F (p.Phe51Phe) variant details
- p.Phe51Phe
- rs1752706399
- gnomAD 5-148070394-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.48
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available