V12S (p.Val12Ser) variant of PCCA (P05165)
V12S (p.Val12Ser) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V12S (p.Val12Ser) variant details
- p.Val12Ser
- gnomAD 13-100089152-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available