F4S (p.Phe4Ser) variant of PCCA (P05165)
F4S (p.Phe4Ser) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F4S (p.Phe4Ser) variant details
- p.Phe4Ser
- gnomAD 13-100089125-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available