A2A (p.Ala2Ala) variant of PCCA (P05165)
A2A (p.Ala2Ala) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 13-100089126-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 9.83
- Population evidence available
- Structural context available
- Literature evidence available