F4F (p.Phe4Phe) variant of PCCA (P05165)
F4F (p.Phe4Phe) in PCCA (P05165) 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.
F4F (p.Phe4Phe) variant details
- p.Phe4Phe
- rs759257021
- gnomAD 13-100089132-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.51
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available