V6S (p.Val6Ser) variant of PCCA (P05165)
V6S (p.Val6Ser) in PCCA (P05165) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V6S (p.Val6Ser) variant details
- p.Val6Ser
- gnomAD 13-100089133-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 24.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available