F12F (p.Phe12Phe) variant of MMAA (Q8IVH4)
F12F (p.Phe12Phe) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F12F (p.Phe12Phe) variant details
- p.Phe12Phe
- rs1661385949
- gnomAD 4-145639175-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 8.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available